{"id":"W2039715343","doi":"10.1097/mcd.0b013e328318c4fb","title":"Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene","year":2008,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Treacher Collins syndrome; Missense mutation; Medicine; Craniofacial; Genetics; Medical genetics; Mutation; Gene; Biology; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003500718,0.0001684684,0.0003404681,0.00006137719,0.00007291738,0.000007124176,0.00007494906,0.0002797387,0.000008828419],"category_scores_gemma":[0.0001562044,0.0001258436,0.00006240374,0.0001558275,0.0004550803,0.000005693435,0.00004202621,0.0001599741,0.000001013579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007317972,"about_ca_system_score_gemma":0.00007329643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004839686,"about_ca_topic_score_gemma":0.001234426,"domain_scores_codex":[0.9986783,0.0001577153,0.0004498761,0.0004260915,0.00007129722,0.0002167462],"domain_scores_gemma":[0.9995322,0.00009494481,0.00009377221,0.0001846477,0.00003248077,0.0000619355],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00292131,0.004226465,0.68878,0.000051015,0.0002489014,0.2191891,0.003941748,0.00002928359,0.07450188,0.0001878207,0.00004966927,0.005872844],"study_design_scores_gemma":[0.007426992,0.001750254,0.8517948,0.00001084194,0.00006107381,0.1381016,0.0003517114,0.00006595867,0.0000851513,0.0000793619,0.00007830388,0.0001939947],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988057,0.0002036888,0.0003178374,0.0001321573,0.00004328711,0.0003796268,0.00008203391,0.000003246558,0.00003243113],"genre_scores_gemma":[0.9986719,0.000283827,0.0007048477,0.0002008757,0.00002234589,0.00003275007,0.00004526157,0.00001479902,0.00002336801],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1630148,"threshold_uncertainty_score":0.5131754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0285183939321699,"score_gpt":0.2969578486663078,"score_spread":0.2684394547341379,"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."}}