{"id":"W3135071269","doi":"10.1161/jaha.120.017128","title":"Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis","year":2021,"lang":"en","type":"article","venue":"Journal of the American Heart Association","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Libin Cardiovascular Institute of Alberta; University of Calgary","funders":"","keywords":"Ryanodine receptor 2; Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor; Medicine; Sudden death; Internal medicine; Endocrinology; Ventricular fibrillation; Cardiology; Genetics; Biology; Receptor","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":[0.00009208886,0.0003562803,0.0002657236,0.0004831612,0.0001942204,0.0001620566,0.0002807886,0.000376836,0.0007591719],"category_scores_gemma":[0.0002822608,0.00009481873,0.0005319181,0.0003251093,0.0001140551,0.0000853356,0.0001467718,0.0001242162,0.0001320147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001335297,"about_ca_system_score_gemma":0.0001190862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001102413,"about_ca_topic_score_gemma":0.000989157,"domain_scores_codex":[0.9999325,0.00001155811,0.000007330575,0.00002265409,0.0000160796,0.000009854748],"domain_scores_gemma":[0.9999352,0.00002186402,0.00001807539,0.000004374368,0.000005875509,0.00001460248],"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":[0.002291549,0.0005670682,0.3868803,0.000339722,0.0005901204,0.08463787,0.0003845442,0.04760801,0.4321216,0.00181024,0.002862249,0.03990677],"study_design_scores_gemma":[0.0002158609,0.0005650708,0.5348882,0.00004394049,0.0004159819,0.08609071,0.0003014921,0.340683,0.03124253,0.002390183,0.003046591,0.0001164896],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978262,0.00008834584,0.001491416,0.00004843271,0.000005269707,0.000009303373,0.0002806883,0.00004204657,0.0002082442],"genre_scores_gemma":[0.9981076,0.00002914047,0.001375111,0.00001351595,0.000004915054,0.000006973546,0.0003520883,0.00000683551,0.0001038988],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001102413,"threshold_uncertainty_score":0.002539754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01696544906049697,"score_gpt":0.2973468035485836,"score_spread":0.2803813544880866,"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."}}