{"id":"W1965076304","doi":"10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f","title":"Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1)","year":2000,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Monosomy; Breakpoint; Karyotype; X chromosome; Chromosomal translocation; Partial Trisomy; Trisomy; Genetics; Biology; Phenotype; Chromosome; 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":[0.0002135291,0.001462632,0.000748342,0.0009592285,0.001280211,0.0006243265,0.000371711,0.001294504,0.002068719],"category_scores_gemma":[0.00175266,0.0005134475,0.0004733381,0.0008285065,0.001061244,0.0005978471,0.0009938944,0.001223772,0.0004948513],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002664896,"about_ca_system_score_gemma":0.0004228284,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002039497,"about_ca_topic_score_gemma":0.002276111,"domain_scores_codex":[0.999727,0.00003551497,0.00002502341,0.00007419963,0.00005545527,0.00008292184],"domain_scores_gemma":[0.9994437,0.0001647656,0.0001472865,0.00002278481,0.00002267396,0.0001988059],"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":[0.00008802879,0.00008035386,0.01726157,0.00004738017,0.00001295686,0.9702489,0.0005628083,0.0001679768,0.008532132,0.0003123357,0.0005024773,0.002183106],"study_design_scores_gemma":[0.00001586753,0.0002226805,0.02900821,0.000009882327,0.00002217592,0.9683053,0.000167033,0.0001259918,0.001063957,0.0001059423,0.0009420206,0.0000109753],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934407,0.0008153871,0.0007003489,0.0007964117,0.0001001655,0.00003133234,0.0004130861,0.0001371307,0.003565391],"genre_scores_gemma":[0.9968988,0.0008074251,0.0006170578,0.0002364366,0.00008905505,0.000018403,0.0002261287,0.00003074577,0.001076098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002068719,"threshold_uncertainty_score":0.006920576,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002971601418984642,"score_gpt":0.2157600304915537,"score_spread":0.2127884290725691,"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."}}