{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006668531,0.0001850574,0.0004986514,0.0001377846,0.0002164899,0.000007807652,0.00002593162,0.0002132479,0.0003714378],"category_scores_gemma":[0.00008856918,0.0001845641,0.0001814483,0.0003851925,0.0002282991,0.00008351953,0.00002733356,0.0002759933,0.00005805515],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005228353,"about_ca_system_score_gemma":0.0001656661,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005893176,"about_ca_topic_score_gemma":0.000002031955,"domain_scores_codex":[0.9986455,0.000129408,0.0003639078,0.0004292752,0.000118912,0.0003130281],"domain_scores_gemma":[0.9990797,0.00006243677,0.0001474603,0.0002989518,0.000306476,0.0001049736],"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":[0.0002214414,0.00005092247,0.001130959,0.00006456998,0.0001684489,0.0000893594,0.00005937551,0.0003275251,0.9819217,0.01245965,0.0002166079,0.003289411],"study_design_scores_gemma":[0.005015634,0.002480686,0.8102716,0.0001232036,0.0007323223,0.004378464,0.000105721,0.001244913,0.1369189,0.03041204,0.007551343,0.0007652521],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960816,0.0007137746,0.0009049626,0.0009054001,0.0002065864,0.0001912219,0.000006754247,0.00007004108,0.0009196862],"genre_scores_gemma":[0.9973522,0.0001538203,0.0003529059,0.000403758,0.0007065848,0.00002580944,0.0004559728,0.00002476112,0.0005241376],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8450028,"threshold_uncertainty_score":0.7526305,"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."}}