{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002970723,0.00007524351,0.0001959614,0.00005441057,0.00001580695,0.000002064603,0.00006828591,0.0001659258,0.00003992684],"category_scores_gemma":[0.0001110721,0.00006501516,0.00003563538,0.00005145211,0.00007599243,0.000005271504,0.00002123761,0.00004955071,0.000001546063],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004127371,"about_ca_system_score_gemma":0.00004354742,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001606067,"about_ca_topic_score_gemma":0.000005788904,"domain_scores_codex":[0.9991019,0.000195774,0.0003222083,0.0002249932,0.00005941088,0.00009571252],"domain_scores_gemma":[0.9994659,0.0001156084,0.0001435354,0.0001761058,0.00006476295,0.00003410644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001986658,0.00006034974,0.5419734,0.00001001471,0.000004645342,3.961096e-7,0.00003673339,0.000438884,0.4565212,0.00001660255,0.00001143431,0.0009064198],"study_design_scores_gemma":[0.0005910416,0.0008070404,0.8683616,0.00002662545,0.000007149398,0.000007543777,0.0001194691,0.000360256,0.1293755,0.0000306724,0.0002397517,0.00007332228],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992776,0.0001914638,0.0001612087,0.00003112941,0.0001240606,0.0001738149,0.000007916547,0.000003068587,0.00002975945],"genre_scores_gemma":[0.99814,0.0003222433,0.001204,0.00007455672,0.00005821005,0.00001088007,0.0001562044,0.000008696688,0.00002520162],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3271457,"threshold_uncertainty_score":0.2651241,"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."}}