{"id":"W3196999474","doi":"10.1161/circep.121.010013","title":"Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations","year":2021,"lang":"en","type":"article","venue":"Circulation Arrhythmia and Electrophysiology","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto; University of British Columbia; Population Health Research Institute; Child and Family Research Institute; University of Calgary; Libin Cardiovascular Institute of Alberta","funders":"Canadian Institutes of Health Research; National Institutes of Health; Novo Nordisk Fonden; Novo Nordisk; National Heart, Lung, and Blood Institute; Cumming School of Medicine, University of Calgary; Heart and Stroke Foundation of Canada; Alberta Innovates; Alberta Innovates - Health Solutions; Centers for Disease Control and Prevention; E-Rare","keywords":"Ryanodine receptor; Ryanodine receptor 2; Medicine; Receptor; Mutation; Internal medicine; Endocrinology; Cell biology; Genetics; Cardiology; Biology; 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":[0.0002423038,0.000943616,0.0003770956,0.0005016661,0.0002296155,0.0002901418,0.0004556381,0.0009288715,0.001982023],"category_scores_gemma":[0.0004150006,0.0001327139,0.0004713936,0.0002245465,0.0003432285,0.0001540668,0.0003846701,0.0003056308,0.000515847],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001885073,"about_ca_system_score_gemma":0.000196305,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003291257,"about_ca_topic_score_gemma":0.0003558646,"domain_scores_codex":[0.9997374,0.00003639184,0.00004960578,0.00008877019,0.00005276511,0.00003505307],"domain_scores_gemma":[0.9998018,0.00006317232,0.00005321292,0.00001376079,0.00002292438,0.00004525042],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009653224,0.0003440089,0.09556062,0.0003589379,0.0003344892,0.1501483,0.0004697155,0.0009908264,0.7302209,0.0004308301,0.001820719,0.01835531],"study_design_scores_gemma":[0.0003707341,0.001361489,0.2527567,0.0000856964,0.0004928594,0.5640206,0.0002830565,0.002470648,0.1634662,0.000265759,0.01434943,0.00007681263],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951146,0.001035995,0.0017549,0.0001753112,0.00004339347,0.00005529146,0.0005962629,0.00006553868,0.001158637],"genre_scores_gemma":[0.9961838,0.0004130427,0.001628079,0.0002194353,0.00005691043,0.00003501288,0.0007655722,0.00002842575,0.0006697749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001982023,"threshold_uncertainty_score":0.00663054,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01092908704841469,"score_gpt":0.2606285713683362,"score_spread":0.2496994843199215,"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."}}