{"id":"W2788094244","doi":"10.1002/ajmg.a.38626","title":"Further delineation of an entity caused by <i>CREBBP</i> and <i>EP300</i> mutations but not resembling Rubinstein–Taybi syndrome","year":2018,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":76,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Natural Science Foundation of China; Rare Disease Foundation; BC Children's Hospital; Children's Hospital Foundation; Helse Vest; Ministry of Health","keywords":"Rubinstein–Taybi syndrome; Genetics; Biology; Mutation; Medicine; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003111392,0.0007922608,0.0005053564,0.00151021,0.0005902444,0.0004362616,0.0005414676,0.001121375,0.002056752],"category_scores_gemma":[0.001101214,0.0002026124,0.0007217189,0.0005538585,0.0008859721,0.0006301945,0.001000105,0.001033415,0.0005122486],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002516377,"about_ca_system_score_gemma":0.0003138917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008436723,"about_ca_topic_score_gemma":0.0006903865,"domain_scores_codex":[0.9997098,0.00003417298,0.00004344518,0.0000967407,0.00003924406,0.00007654783],"domain_scores_gemma":[0.9993161,0.0001882702,0.0001761177,0.00008874048,0.00006113952,0.0001697339],"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":[0.0006958428,0.0001637717,0.1083718,0.0002014512,0.0000865961,0.6477219,0.001029011,0.0005324009,0.2083053,0.002774805,0.0009309634,0.02918616],"study_design_scores_gemma":[0.0001095519,0.0003007068,0.09761003,0.00004404578,0.0001303052,0.8768913,0.0003033337,0.001246407,0.01678635,0.001643003,0.004888738,0.0000462605],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990781,0.001048797,0.003943254,0.0003031243,0.00006678281,0.00005851318,0.0001917125,0.00009874388,0.00350813],"genre_scores_gemma":[0.9954419,0.0004376294,0.002784708,0.0001457089,0.0001468532,0.0000198081,0.0004182302,0.00002035015,0.0005847984],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002056752,"threshold_uncertainty_score":0.006880522,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0106402446498869,"score_gpt":0.2762331510267692,"score_spread":0.2655929063768823,"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."}}