{"id":"W2074072691","doi":"10.1159/000348675","title":"Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> Mutation","year":2013,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Soft tissue tumors and treatment","field":"Medicine","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","keywords":"Penetrance; Genetics; Phenotype; Genotype; Mutation; Expressivity; Biology; Genotype-phenotype distinction; Disease; Genetic counseling; Gene; Medicine; Pathology","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":[0.0004136695,0.001181227,0.0005961688,0.001883789,0.0008191312,0.0003784382,0.0003172171,0.000762137,0.003334071],"category_scores_gemma":[0.002397276,0.0005724546,0.0004277705,0.0007762371,0.0006343201,0.0003199272,0.0006456649,0.0003485028,0.0004339814],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003132937,"about_ca_system_score_gemma":0.0001424357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002366446,"about_ca_topic_score_gemma":0.001284883,"domain_scores_codex":[0.9994241,0.0001302399,0.00007280567,0.0001776029,0.0001101832,0.0000851066],"domain_scores_gemma":[0.9993688,0.0002438014,0.0001432685,0.00006196847,0.00003765057,0.000144455],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001603883,0.0003608217,0.8772911,0.00006538214,0.0001480068,0.07030673,0.004612372,0.001041903,0.02996021,0.0004586561,0.0005710218,0.01357996],"study_design_scores_gemma":[0.0001104665,0.0008866499,0.8950098,0.0000505,0.0001071914,0.09629983,0.001019821,0.00104645,0.003395959,0.0003929185,0.001617714,0.00006278919],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992429,0.00008671542,0.0001768389,0.00001473421,0.000002432674,0.000007526221,0.0001690219,0.000006769753,0.0002931338],"genre_scores_gemma":[0.9990728,0.00007849427,0.0002236422,0.00001807599,0.000005558584,0.00001758269,0.0002550501,0.00001174246,0.0003170743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003334071,"threshold_uncertainty_score":0.01115358,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006710344406948412,"score_gpt":0.2228574993239779,"score_spread":0.2161471549170295,"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."}}