{"id":"W2982125900","doi":"10.1002/ajmg.a.61379","title":"Grange syndrome due to homozygous <i>YY1AP1</i> missense rare variants","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Obstructive Sleep Apnea Research","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"National Heart, Lung, and Blood Institute","keywords":"Brachydactyly; Missense mutation; Penetrance; Medicine; Stenosis; Syndactyly; Internal medicine; Pathology; Cardiology; Anatomy; Genetics; Mutation; Biology; Gene; Phenotype","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":[0.0001027841,0.002319696,0.0005480481,0.0008751624,0.0008912223,0.0005363842,0.0004472265,0.001560321,0.003040647],"category_scores_gemma":[0.0008790658,0.0004008971,0.0005395295,0.0007351317,0.0009558841,0.0003322072,0.001060629,0.0008049675,0.0006348971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000277234,"about_ca_system_score_gemma":0.0003582472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001398316,"about_ca_topic_score_gemma":0.001603607,"domain_scores_codex":[0.9997905,0.00002137261,0.00001775539,0.00007141541,0.00004309783,0.00005585231],"domain_scores_gemma":[0.9996112,0.0001002102,0.0001502238,0.00001860039,0.0000169973,0.0001027453],"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":[0.0003294288,0.00004436961,0.01629361,0.00009521096,0.00008779907,0.9137892,0.0003398205,0.0002829255,0.06165964,0.0009256955,0.00102503,0.005127241],"study_design_scores_gemma":[0.00006430707,0.0001289783,0.0251803,0.00003166695,0.00009743684,0.9593887,0.0001783276,0.0003510439,0.01031548,0.0005368582,0.003686489,0.00004044309],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989829,0.001511172,0.002841831,0.0003630086,0.0001690682,0.00005913007,0.0005077669,0.0003581429,0.004360766],"genre_scores_gemma":[0.9964311,0.0005697447,0.0009859315,0.0001058958,0.00009955969,0.00001575018,0.0002474818,0.0000386438,0.001505803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003040647,"threshold_uncertainty_score":0.01017195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0141167506543134,"score_gpt":0.3037109602527358,"score_spread":0.2895942095984224,"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."}}