{"id":"W1989010389","doi":"10.1002/ajmg.a.36172","title":"The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services; Alberta Children's Hospital; University of Calgary; University of Alberta","funders":"Canadian Institutes of Health Research; Ministry of Food and Drug Safety","keywords":"Treacher Collins syndrome; Genetics; Mendelian inheritance; Population; Founder effect; Mutation; Biology; Demography; Genotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001826865,0.0008094585,0.0004889229,0.00080595,0.001001632,0.0004899755,0.000481395,0.002237289,0.001092954],"category_scores_gemma":[0.0009377023,0.000351286,0.0002880676,0.000535981,0.0007415978,0.0009348227,0.0006276001,0.0018597,0.0003780746],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005364597,"about_ca_system_score_gemma":0.0004476306,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004053426,"about_ca_topic_score_gemma":0.005891412,"domain_scores_codex":[0.9998453,0.00001246863,0.00001040637,0.00004429759,0.00002704538,0.00006053232],"domain_scores_gemma":[0.9997085,0.00005178184,0.00004733754,0.00001568109,0.0000373796,0.0001392476],"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":[0.00008654476,0.00008962018,0.02503511,0.00004743419,0.00002628622,0.9491117,0.001408618,0.00007860618,0.002394577,0.001462315,0.006848521,0.01341062],"study_design_scores_gemma":[0.00002067508,0.0001110002,0.02884632,0.00006060256,0.00003244462,0.9534886,0.0007726163,0.0001754878,0.0003475951,0.001076652,0.01503095,0.00003699942],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9266061,0.02013351,0.001333812,0.03557611,0.001815074,0.0000875895,0.0003737669,0.0001445442,0.01392962],"genre_scores_gemma":[0.9702309,0.01427668,0.0006886803,0.00596029,0.002170487,0.00002933725,0.0001631402,0.00004037024,0.006440077],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004053426,"threshold_uncertainty_score":0.008059621,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007026312511561122,"score_gpt":0.2479926010982095,"score_spread":0.2409662885866483,"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."}}