{"id":"W2949560087","doi":"10.1097/aln.0000000000002813","title":"An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations","year":2019,"lang":"en","type":"article","venue":"Anesthesiology","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","keywords":"Penetrance; RYR1; Proband; Medicine; Malignant hyperthermia; Mutation; Ryanodine receptor; Pedigree chart; Genetics; Internal medicine; Oncology; Pathology; Gene; Biology; Phenotype; Receptor","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001194887,0.0002936219,0.0002388856,0.001293317,0.0003134604,0.0003807142,0.0004021976,0.00035417,0.0008530787],"category_scores_gemma":[0.004028826,0.0001548691,0.0003265335,0.0008026845,0.0002673439,0.0002709877,0.0004414721,0.0002598773,0.0001217413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003315194,"about_ca_system_score_gemma":0.000327118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00559793,"about_ca_topic_score_gemma":0.004772565,"domain_scores_codex":[0.9993675,0.0001416756,0.0001010922,0.0001456676,0.0001646643,0.00007929197],"domain_scores_gemma":[0.9974816,0.0004151087,0.001515907,0.0001324608,0.0002414318,0.0002135859],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003886887,0.000008531415,0.9988177,0.000004869071,0.00001411932,0.0001574057,0.00006823886,0.00002214365,0.0002603171,0.000007597309,0.00002022025,0.0005798934],"study_design_scores_gemma":[0.00000212074,0.0000648116,0.9982105,0.000003853157,0.00001684488,0.001335263,0.0001003341,0.00009175463,0.00009485078,0.000008714698,0.00006874504,0.000002179502],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994224,0.00009304984,0.0001152091,0.000009225263,0.000001228648,0.000009286027,0.0001474277,0.000003041652,0.0001991843],"genre_scores_gemma":[0.9995188,0.00004529126,0.0001553586,0.00000438298,0.00000190553,0.00000493267,0.0002208068,0.000001051378,0.00004757224],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00559793,"threshold_uncertainty_score":0.01113069,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01721289518101323,"score_gpt":0.3229049878856903,"score_spread":0.3056920927046771,"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."}}