{"id":"W4323812720","doi":"10.1002/jbmr.4799","title":"Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders","year":2020,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"National Human Genome Research Institute; Sällskapet Barnavård; Science for Life Laboratory; Vetenskapsrådet; National Health and Medical Research Council; Australian Genomics Health Alliance; Stiftelsen Frimurare Barnhuset i Stockholm; Karolinska Institutet; Broad Institute; Stiftelsen Promobilia; Bertil Hållstens Forskningsstiftelse; Genomic Health","keywords":"Sanger sequencing; Dysplasia; Medicine; Compound heterozygosity; Brachydactyly; Macrocephaly; Pathology; Genetics; Short stature; Pediatrics; Biology; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002938529,0.000539724,0.0004369198,0.0010944,0.000426466,0.0006330922,0.0002799058,0.0004408753,0.002628089],"category_scores_gemma":[0.0007009923,0.0001997158,0.0002247834,0.0008565978,0.0004429441,0.0001906166,0.0007111907,0.0002755241,0.001229031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000206784,"about_ca_system_score_gemma":0.0002882676,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001387808,"about_ca_topic_score_gemma":0.001595087,"domain_scores_codex":[0.9994574,0.0001118861,0.00008806596,0.0001520735,0.0001053123,0.00008525656],"domain_scores_gemma":[0.9996996,0.00004523746,0.0001194934,0.00003328357,0.00003013289,0.00007222593],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001503217,0.0001075927,0.5258434,0.0003800004,0.0002836475,0.09173704,0.0006557661,0.0004137202,0.2971827,0.001689119,0.002348546,0.07785521],"study_design_scores_gemma":[0.00005682145,0.000315239,0.709228,0.00009556528,0.0001341177,0.2455916,0.00054585,0.0004181211,0.01723133,0.0006388026,0.02571713,0.00002748052],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9879801,0.003974851,0.001561263,0.0001693514,0.00002720678,0.0000334145,0.0008701211,0.00009899973,0.005284688],"genre_scores_gemma":[0.9950447,0.001017871,0.001447527,0.00008093791,0.00003001164,0.00001584013,0.001091727,0.00002231989,0.001249014],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002628089,"threshold_uncertainty_score":0.008791804,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03115031613007608,"score_gpt":0.3416075264441312,"score_spread":0.3104572103140552,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}