{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":7,"total_is_capped":false,"direct_labels_cover":0,"predictions_cover":7,"direct_label_status":"direct model label, unvalidated","prediction_status":"machine_predicted_unvalidated (Codex and Gemma teacher distillation)","score_status":"score_only:v0-immature-baseline (scores rank; they never assert a category)","snapshot":{"source":"OpenAlex, pinned release, all 482 partitions","release":"2026-06-24","frame_built":"2026-07-12","author_layer_release":"2026-06-26"},"query_hash":"49d0b938bdff","filters":{"venue":"Global Medical Genetics"}},"results":[{"id":"W4392844112","doi":"10.1055/s-0044-1779469","title":"Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives","year":2024,"lang":"en","type":"review","venue":"Global Medical Genetics","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"","keywords":"Health equity; Medicine; Genetic testing; Ethnic group; Health care; Cardiomyopathy; Socioeconomic status; MEDLINE; Disease; Family medicine; Gerontology; Heart failure; Pathology; Population; Environmental health; Public health; Internal medicine; Political science","authors":[{"name":"He Huang","is_ca":false},{"name":"Jay Verma","is_ca":false},{"name":"Valerie Mok","is_ca":true},{"name":"Hareesha Rishab Bharadwaj","is_ca":false},{"name":"Maen Monketh Alrawashdeh","is_ca":false},{"name":"Adarsh Aratikatla","is_ca":false},{"name":"Sourav Sudan","is_ca":false},{"name":"Suprateeka Talukder","is_ca":false},{"name":"Minatoullah Habaka","is_ca":false},{"name":"Gary Tse","is_ca":false},{"name":"Mainak Bardhan","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1759625659124214,"gpt":0.4448424073868195,"spread":0.268879841474398,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001447293,0.0004958545,0.002220465,0.0002992649,0.0001203019,0.00008907787,0.0001871551,0.0002446095,0.000001799844],"category_scores_gemma":[0.001297035,0.0004030994,0.000394281,0.0007460942,0.0003806786,0.00003624622,0.0005314164,0.001272594,0.000004856613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008059905,"about_ca_system_score_gemma":0.002003353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000168144,"about_ca_topic_score_gemma":0.00007143168,"domain_scores_codex":[0.9957013,0.0004546078,0.0006577023,0.001001048,0.001371801,0.0008135112],"domain_scores_gemma":[0.9978836,0.0004870824,0.0000727726,0.0004666904,0.0002830373,0.0008068451],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001811544,0.00002556271,0.0001539594,0.08655341,0.0001820319,0.0004662763,0.0005695812,7.07328e-7,7.703698e-9,0.00001458623,0.000584739,0.911431],"study_design_scores_gemma":[0.00116117,0.000831275,0.003851681,0.06819228,0.001879998,0.001713476,0.002259821,0.00008623933,9.799184e-8,0.0002217021,0.9192338,0.0005684746],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002205949,0.9927948,0.00002885442,0.0004188474,0.001169046,0.002935414,0.0003500626,0.00004601499,0.00005102588],"genre_scores_gemma":[0.0002962167,0.9935761,0.001967957,0.00002127744,0.003373924,0.0006237158,0.00005899953,0.00007743878,0.00000434864],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.918649,"threshold_uncertainty_score":0.9998421,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3211763077","doi":"10.1055/s-0041-1736567","title":"Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India","year":2021,"lang":"en","type":"article","venue":"Global Medical Genetics","topic":"Calpain Protease Function and Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Missense mutation; Cohort; Proband; Limb-girdle muscular dystrophy; Family history; Internal medicine; Pediatrics; Weakness; Age of onset; Compound heterozygosity; Disease; Surgery; Mutation; Genetics; Biology","authors":[{"name":"Kiran Polavarapu","is_ca":true},{"name":"Mainak Bardhan","is_ca":false},{"name":"Veeramani Preethish‐Kumar","is_ca":false},{"name":"Leena Shingavi","is_ca":false},{"name":"Ram Murthy Anjanappa","is_ca":true},{"name":"Seena Vengalil","is_ca":false},{"name":"Saraswati Nashi","is_ca":false},{"name":"Gautham Arunachal","is_ca":false},{"name":"Swetha Gunasekaran","is_ca":false},{"name":"Dhaarini Mohan","is_ca":false},{"name":"Sanita Raju","is_ca":false},{"name":"Gopikrishnan Unnikrishnan","is_ca":false},{"name":"Akshata Huddar","is_ca":false},{"name":"Valasani Ravi-Kiran","is_ca":false},{"name":"Priya Treesa Thomas","is_ca":false},{"name":"Atchayaram Nalini","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.002991071860235458,"gpt":0.2491455754511153,"spread":0.2461545035908799,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001046988,0.0000902038,0.0001115037,0.00001486407,0.00002471832,0.000008938653,0.0000544528,0.0001746727,0.00007298381],"category_scores_gemma":[0.0002841445,0.00008300231,0.00003592819,0.00009637657,0.00006119388,0.000002107213,0.0001213767,0.00005711604,0.000002212096],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001639009,"about_ca_system_score_gemma":0.0001343621,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001409063,"about_ca_topic_score_gemma":0.00006999663,"domain_scores_codex":[0.9989247,0.00009324413,0.0002273719,0.0002638188,0.0003543024,0.0001365772],"domain_scores_gemma":[0.9994689,0.000008079855,0.00006838761,0.0001493481,0.00009675767,0.0002085292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006995184,0.0002450785,0.9301039,0.00002769248,0.00002142898,0.00002225727,0.00001796014,0.00001106093,0.0007857142,0.000009330993,0.0001922948,0.06849335],"study_design_scores_gemma":[0.001388891,0.00008665159,0.9921355,0.00007442922,0.00002401578,0.000002453574,0.00002176288,0.001204659,0.002831355,0.0001472453,0.001986326,0.00009675555],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944664,0.001489915,0.003287011,0.0001350034,0.0001870573,0.0001978755,0.0001590887,0.000005088918,0.00007255041],"genre_scores_gemma":[0.9977042,0.0002505516,0.0002082533,0.0003397664,0.0000951719,0.00001286046,0.001367066,0.000006108727,0.00001601835],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06839659,"threshold_uncertainty_score":0.3384736,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4406269216","doi":"10.1016/j.gmg.2025.100036","title":"Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum","year":2025,"lang":"en","type":"article","venue":"Global Medical Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Glutaric acid; Phenotype; Medicine; Chemistry; Biology; Genetics; Biochemistry; Gene","authors":[{"name":"Dipti Baskar","is_ca":false},{"name":"Rita Christopher","is_ca":false},{"name":"Gautham Arunachal","is_ca":false},{"name":"Davuluri Durga Srinivas Anudeep","is_ca":false},{"name":"Ambati Mounika","is_ca":false},{"name":"TA Sangeeth","is_ca":false},{"name":"Kiran Polavarapu","is_ca":true},{"name":"BS Shalini","is_ca":false},{"name":"Tarachand Joshi","is_ca":false},{"name":"Sai Bhargava Sanka","is_ca":false},{"name":"Saraswati Nashi","is_ca":false},{"name":"Pritam Raja","is_ca":false},{"name":"Ravindranadh Mundlamuri Chowdary","is_ca":false},{"name":"Ravi Yadav","is_ca":false},{"name":"Atchayaram Nalini","is_ca":false},{"name":"Seena Vengalil","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00439987986872676,"gpt":0.2645928743717868,"spread":0.26019299450306,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002761428,0.0002467167,0.0002357172,0.00003834264,0.0001723904,0.00005210266,0.0008492233,0.0002192087,0.000118144],"category_scores_gemma":[0.0003398267,0.0001870967,0.0001171104,0.0004850073,0.0001727116,0.000001514021,0.0005885464,0.0001509684,0.00008943681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001084255,"about_ca_system_score_gemma":0.0002778912,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002093373,"about_ca_topic_score_gemma":0.0001175134,"domain_scores_codex":[0.9980282,0.0001254034,0.0003237273,0.0005221507,0.0004723764,0.0005281998],"domain_scores_gemma":[0.9988905,0.00001954354,0.00004949336,0.0006804509,0.00004858284,0.0003114198],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00130007,0.0009224479,0.05523767,0.0001754033,0.001863769,0.0003328907,0.000570996,0.001138672,0.08056696,0.01460406,0.2261183,0.6171688],"study_design_scores_gemma":[0.002779478,0.0005989982,0.1563998,0.00008239578,0.0004630027,0.0001795177,0.0002758388,0.0003549518,0.03693572,0.008758722,0.7921943,0.0009773151],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9454375,0.006965382,0.02864287,0.007066126,0.002594384,0.0004687607,0.00005066436,0.00003501349,0.008739275],"genre_scores_gemma":[0.9864632,0.001152374,0.0009690381,0.009868958,0.0005130852,0.00003652129,0.00004050721,0.0000180022,0.0009383346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6161914,"threshold_uncertainty_score":0.7629582,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4366609209","doi":"10.1055/s-0043-1768238","title":"Replication Timing Aberration of KIF14 and MDM4/PI3KC2β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients","year":2023,"lang":"en","type":"article","venue":"Global Medical Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Fundação de Amparo à Pesquisa do Estado de São Paulo","keywords":"Aneuploidy; Chromosome instability; Replication (statistics); Biology; Genetics; Allele; Genome instability; DNA damage; DNA; Chromosome; Virology; Gene","authors":[{"name":"Fernanda Rocha Rojas Ayala","is_ca":false},{"name":"Jeffrey W. Martin","is_ca":true},{"name":"Carmen Sílvia Bertuzzo","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01125768566080428,"gpt":0.2708924881516434,"spread":0.2596348024908391,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002866292,0.0001063912,0.0001587124,0.00003123948,0.00002641543,0.000005803514,0.00005856605,0.0001289984,0.000001623173],"category_scores_gemma":[0.000426188,0.0001009614,0.00002135765,0.0001032219,0.0001668581,0.000003351596,0.0001160195,0.00003456289,2.562763e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003222713,"about_ca_system_score_gemma":0.0001254959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001300469,"about_ca_topic_score_gemma":0.00009671818,"domain_scores_codex":[0.9990213,0.0000886691,0.0002828759,0.0003147843,0.0001566357,0.0001357263],"domain_scores_gemma":[0.9995401,0.00002896222,0.00008461322,0.0001976502,0.00004945528,0.00009921184],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00155449,0.0002665439,0.3870456,0.0001794144,0.00005927013,0.000008114336,0.0002935044,0.00005371854,0.5649188,0.00003183197,0.00004929504,0.04553939],"study_design_scores_gemma":[0.002000743,0.001966713,0.9532991,0.00007771215,0.00003162825,0.00001478454,0.0002773495,0.001813164,0.03987218,0.000107448,0.0003914922,0.0001476676],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987795,0.000699038,0.0000436183,0.0001015411,0.00002999665,0.0002425503,0.00006569904,0.000005141131,0.00003288541],"genre_scores_gemma":[0.9977383,0.001641107,0.000407042,0.00007629481,0.00001443863,0.00001078919,0.0001004924,0.000006416452,0.000005140144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5662535,"threshold_uncertainty_score":0.4117087,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4396830108","doi":"10.1055/s-0044-1786815","title":"Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy","year":2024,"lang":"en","type":"article","venue":"Global Medical Genetics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Myopathy; Muscle biopsy; Mutation; Congenital myopathy; Pathology; Eosinophilic; Autophagy; Weakness; Medicine; Genetics; Biology; Biopsy; Gene; Anatomy","authors":[{"name":"Mainak Bardhan","is_ca":false},{"name":"Kiran Polavarapu","is_ca":true},{"name":"Dipti Baskar","is_ca":false},{"name":"Veeramani Preethish‐Kumar","is_ca":false},{"name":"Seena Vengalil","is_ca":false},{"name":"Saraswati Nashi","is_ca":false},{"name":"Dinesh C Sharma","is_ca":false},{"name":"Karthik Kulanthaivelu","is_ca":false},{"name":"B. N. Nandeesh","is_ca":false},{"name":"Atchayaram Nalini","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01234066530780458,"gpt":0.286248417615574,"spread":0.2739077523077694,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004037819,0.0001326157,0.0004199831,0.0000803403,0.00001677518,0.000008593811,0.00007643276,0.0001606395,0.00001146553],"category_scores_gemma":[0.0004733639,0.00009428662,0.00007146783,0.0007223334,0.0003144703,0.00003030528,0.00004234874,0.0001926309,0.000001981441],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001943701,"about_ca_system_score_gemma":0.0005439976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000216799,"about_ca_topic_score_gemma":0.0001737355,"domain_scores_codex":[0.9981787,0.00003288918,0.0004976317,0.0002414137,0.0008376996,0.0002116374],"domain_scores_gemma":[0.9993025,0.0001034703,0.0001168666,0.0001651219,0.0001972553,0.0001147954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.009560362,0.01264808,0.1879295,0.008145086,0.007776858,0.005136206,0.02066355,0.001685207,0.05253728,0.04695902,0.002919548,0.6440393],"study_design_scores_gemma":[0.01337799,0.004727297,0.8906758,0.004864038,0.001692099,0.0007584995,0.001711956,0.07347578,0.006317894,0.001164075,0.0007735789,0.000461016],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860008,0.002203867,0.01019238,0.0006675656,0.0001607453,0.0003473932,0.00006074864,0.00004226598,0.0003242736],"genre_scores_gemma":[0.99917,0.0001481072,0.0004338129,0.00006198127,0.00007540135,0.00002452764,0.0000383762,0.00001151084,0.00003625989],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7027463,"threshold_uncertainty_score":0.3844897,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4402254675","doi":"10.1055/s-0044-1790245","title":"Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy","year":2024,"lang":"en","type":"article","venue":"Global Medical Genetics","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Myopathy; Muscle biopsy; Ophthalmoparesis; Medicine; Congenital myopathy; Exome sequencing; Pathology; Phenotype; Internal medicine; Biology; Biopsy; Genetics; Gene; Ataxia","authors":[{"name":"Dipti Baskar","is_ca":false},{"name":"Seena Vengalil","is_ca":false},{"name":"Kiran Polavarapu","is_ca":true},{"name":"Veeramani Preethish‐Kumar","is_ca":false},{"name":"Gautham Arunachal","is_ca":false},{"name":"Ramya Sukrutha","is_ca":false},{"name":"Mainak Bardhan","is_ca":false},{"name":"Akshata Huddar","is_ca":false},{"name":"Gopikrishnan Unnikrishnan","is_ca":false},{"name":"Girish Baburao Kulkarni","is_ca":false},{"name":"Yasha T. Chickabasaviah","is_ca":false},{"name":"Rashmi Santhosh Kumar","is_ca":false},{"name":"Atchayaram Nalini","is_ca":false},{"name":"Saraswati Nashi","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02714125452460901,"gpt":0.303985948135078,"spread":0.276844693610469,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002425261,0.000161376,0.0001791648,0.00004472411,0.00005661483,0.00006730536,0.0003260592,0.0002480503,0.0003963247],"category_scores_gemma":[0.0008901402,0.0001332258,0.00008480898,0.0006555422,0.0002048381,0.00004006156,0.0001566429,0.0002707744,0.0003838779],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001348439,"about_ca_system_score_gemma":0.0001878761,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002647578,"about_ca_topic_score_gemma":0.0001420416,"domain_scores_codex":[0.9979264,0.0001548893,0.0002950621,0.0004412381,0.0007398452,0.000442597],"domain_scores_gemma":[0.9994256,0.0001077472,0.00002631878,0.0001125486,0.00002170399,0.0003060436],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002833692,0.003588054,0.0400653,0.0005096373,0.0002435272,0.009221495,0.002674589,0.001114086,0.09517597,0.02324606,0.03917897,0.784699],"study_design_scores_gemma":[0.007753058,0.00234786,0.04335324,0.001428395,0.000244589,0.0009207404,0.0005447579,0.296237,0.4428457,0.02612901,0.1739928,0.004202867],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913012,0.00157345,0.0001967713,0.0007011808,0.003650389,0.0001445792,0.00008675929,0.0001477055,0.002197896],"genre_scores_gemma":[0.9982867,0.0003615641,0.0000321222,0.0009309378,0.0002554827,0.00000800701,0.000006169522,0.0000137937,0.0001052105],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7804961,"threshold_uncertainty_score":0.5432792,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4407081714","doi":"10.1016/j.gmg.2024.100015","title":"WITHDRAWN:46 XX Ovotesticular DSD with GNRHR, autosomal recessive heterozygous missens mutation and autosomal dominant heterozigous missense mutation of the PROKR2 gene, a case report.","year":2024,"lang":"en","type":"article","venue":"Global Medical Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":true,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"National Association of Friendship Centres","funders":"","keywords":"Missense mutation; Genetics; Mutation; Heterozygote advantage; Biology; Gene; Genotype","authors":[{"name":"Md Peranzoni Francesca","is_ca":false},{"name":"Pr. De Castro Roberto","is_ca":true},{"name":"Pr. Merlini Vittorio Emilio","is_ca":false},{"name":"Phillip Le","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006671051131747037,"gpt":0.2647011554786736,"spread":0.2580301043469266,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002567935,0.0003256999,0.0003545585,0.00005665377,0.0001627923,0.00008848043,0.0002111547,0.0003486529,0.00004469687],"category_scores_gemma":[0.0004614117,0.0002135391,0.0001570772,0.0003377531,0.0006689081,0.000009869676,0.0001754103,0.0001985556,0.000004816667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002473791,"about_ca_system_score_gemma":0.0003851584,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009328883,"about_ca_topic_score_gemma":0.0001916346,"domain_scores_codex":[0.9974259,0.0001606291,0.000731785,0.0006313051,0.0006916492,0.0003587203],"domain_scores_gemma":[0.9986881,0.00007042604,0.0002535055,0.000416657,0.0002508136,0.0003204966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.002456985,0.001938762,0.007967525,0.003011869,0.002558005,0.6985018,0.002464733,0.002927341,0.1138612,0.001096677,0.004407686,0.1588075],"study_design_scores_gemma":[0.003920663,0.003941123,0.009668513,0.000863848,0.000793409,0.7458826,0.001171503,0.01154634,0.212437,0.001007064,0.007618645,0.001149314],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925273,0.003676123,0.001345833,0.001150271,0.000395355,0.000470898,0.00007286062,0.00003562367,0.0003257159],"genre_scores_gemma":[0.9961978,0.0002754435,0.002349798,0.0003427122,0.0002607916,0.00003547452,0.00006168729,0.00002792492,0.0004483849],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1576582,"threshold_uncertainty_score":0.8707873,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}