{"id":"W3194040722","doi":"10.1002/ajmg.a.62464","title":"Novel cases of pediatric sudden cardiac death secondary to <scp><i>TRDN</i></scp> mutations presenting as long <scp>QT</scp> syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The <scp><i>TRDN</i></scp> arrhythmia syndrome","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto","funders":"","keywords":"Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome; Missense mutation; Sudden cardiac death; Medicine; Internal medicine; Exome sequencing; Sudden death; Cardiology; Brugada syndrome; Ventricular tachycardia; Ryanodine receptor 2; QT interval; Mutation; Genetics; Biology","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":[0.000165807,0.0008083247,0.0004860346,0.0006661739,0.0005817636,0.0004807092,0.0004919657,0.001005618,0.001048172],"category_scores_gemma":[0.0009309053,0.0004151131,0.0004267709,0.000544814,0.0007702737,0.0003299277,0.0006773279,0.0006944805,0.0003012978],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002909462,"about_ca_system_score_gemma":0.0002387324,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000466085,"about_ca_topic_score_gemma":0.0007734368,"domain_scores_codex":[0.9997266,0.0000365437,0.00003469649,0.00008105193,0.00004570586,0.00007531319],"domain_scores_gemma":[0.9993008,0.0001609946,0.0002791618,0.00005136066,0.0000487121,0.0001589124],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001137962,0.00005167252,0.1315816,0.00006562126,0.00003886337,0.8546637,0.0006112821,0.0002865587,0.00658385,0.0003165157,0.0004900426,0.005196532],"study_design_scores_gemma":[0.00003047055,0.0001386029,0.05854525,0.00001247012,0.00003085232,0.9378023,0.0002123896,0.0003339635,0.001832887,0.0001663584,0.0008820138,0.00001244622],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997482,0.0004015231,0.001000106,0.00008681542,0.00002232228,0.00002888902,0.00009640902,0.00004073414,0.0008412401],"genre_scores_gemma":[0.9986676,0.0002805358,0.0005638853,0.00006928024,0.00004981396,0.00001584074,0.0001465343,0.000009251092,0.0001973471],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001048172,"threshold_uncertainty_score":0.003506482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01008553502685832,"score_gpt":0.2545790921137633,"score_spread":0.244493557086905,"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."}}