{"id":"W1981109336","doi":"10.1002/ajmg.a.31750","title":"De novo three‐way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Cleidocranial Dysplasia; RUNX2; Biology; Breakpoint; Proband; Supernumerary; Derivative chromosome; Genetics; Chromosomal translocation; Dysplasia; Short stature; Mutation; Gene; Transcription factor; Anatomy; Chromosome 15; Endocrinology","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":[0.0002161296,0.001235188,0.0009825624,0.001586045,0.001217609,0.0006772245,0.0005684846,0.002805187,0.001897092],"category_scores_gemma":[0.001017013,0.0007865974,0.0004857326,0.0008027282,0.0009895539,0.0004988529,0.0007076892,0.001123796,0.0005126122],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007819828,"about_ca_system_score_gemma":0.0005180691,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002323455,"about_ca_topic_score_gemma":0.002481597,"domain_scores_codex":[0.9995676,0.00004061948,0.00004245363,0.0001719423,0.00008938863,0.00008810986],"domain_scores_gemma":[0.9995121,0.0001170113,0.0001250545,0.00002716923,0.00002277481,0.000195856],"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":[0.0001080665,0.00007003873,0.00974117,0.0000335897,0.00001424151,0.969316,0.0002593596,0.0001067819,0.01743034,0.0002070873,0.0002641322,0.0024493],"study_design_scores_gemma":[0.00004927167,0.0001752385,0.03357017,0.000008043517,0.00003245989,0.9607255,0.00006993926,0.000313615,0.003912474,0.0001213289,0.001004754,0.00001723488],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947805,0.0009877795,0.00108994,0.0007427706,0.00008449598,0.00005718058,0.0002585584,0.00009311167,0.001905745],"genre_scores_gemma":[0.9967602,0.0004168527,0.0007909992,0.0002222801,0.0001005032,0.00001311831,0.0001178388,0.00001761085,0.00156061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002805187,"threshold_uncertainty_score":0.006346405,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008406863181117698,"score_gpt":0.2440053891453874,"score_spread":0.2355985259642697,"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."}}