{"id":"W1966999683","doi":"10.1002/ajmg.a.35397","title":"Two extraordinarily severe cases of Treacher Collins syndrome","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":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"","keywords":"Treacher Collins syndrome; Exon; Point mutation; Genetics; Etiology; Gene; Mutation; Polymorphism (computer science); Biology; Medicine; Pathology; Craniofacial; Genotype","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":[0.0004848232,0.002019557,0.0009496861,0.001621846,0.001602492,0.001107557,0.00102765,0.003021785,0.0017976],"category_scores_gemma":[0.004898751,0.001108408,0.0008329922,0.0008453469,0.001842159,0.001033349,0.002115984,0.002299609,0.0008204859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004845557,"about_ca_system_score_gemma":0.0003010282,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007854986,"about_ca_topic_score_gemma":0.001103036,"domain_scores_codex":[0.9988933,0.0001245024,0.0001451962,0.0003408719,0.000181457,0.000314703],"domain_scores_gemma":[0.9966366,0.0007105739,0.0009816947,0.0004349552,0.0002479324,0.0009882003],"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":[0.00009249412,0.0000264992,0.02588469,0.00007361451,0.00003008687,0.9628928,0.0005713084,0.0001990209,0.005569095,0.0003779011,0.0005542309,0.003728274],"study_design_scores_gemma":[0.00001051463,0.00003702574,0.008164597,0.000008483132,0.00001283546,0.989526,0.00009740434,0.00009025593,0.000769094,0.000221995,0.001041482,0.00002026874],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9838658,0.002374193,0.004478645,0.001029655,0.0003363696,0.0001527921,0.0002648085,0.0002221455,0.007275564],"genre_scores_gemma":[0.9964425,0.0006329148,0.001513475,0.0002119652,0.0003036711,0.000031466,0.0001904322,0.00003963025,0.0006340166],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003021785,"threshold_uncertainty_score":0.006013513,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01111564050959434,"score_gpt":0.2832118348800496,"score_spread":0.2720961943704553,"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."}}