{"id":"W2946129440","doi":"10.1016/j.cjca.2019.05.014","title":"Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome","year":2019,"lang":"en","type":"article","venue":"Canadian Journal of Cardiology","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia Hospital; Montreal Heart Institute","funders":"","keywords":"Medicine; Asymptomatic; Short QT syndrome; Carnitine; Autopsy; Genetic testing; Sudden death; QT interval; Cause of death; Mutation; Internal medicine; Long QT syndrome; Pediatrics; Cardiology; Genetics; Disease; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0002696187,0.0005657626,0.0002756389,0.001148105,0.0004835766,0.0003188879,0.0006639634,0.001224226,0.002129966],"category_scores_gemma":[0.001302361,0.0002466476,0.0003328952,0.0002706272,0.0006973044,0.0002805922,0.0003887259,0.0006612829,0.0003035271],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003798315,"about_ca_system_score_gemma":0.0003703485,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002099895,"about_ca_topic_score_gemma":0.0026591,"domain_scores_codex":[0.9998996,0.00001062298,0.00001212488,0.00001941557,0.00002298933,0.00003514606],"domain_scores_gemma":[0.999504,0.0002391293,0.00006659439,0.0000415881,0.00006133798,0.00008731488],"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":[0.000259908,0.00002811266,0.04828385,0.00004766025,0.00003049456,0.9255137,0.0002477327,0.0002055442,0.02178399,0.0007398775,0.0002255939,0.00263357],"study_design_scores_gemma":[0.00007161478,0.0003727153,0.174852,0.00003588851,0.00008995615,0.8055272,0.0004019571,0.001820572,0.01389228,0.001877181,0.001033691,0.00002509506],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993942,0.0007648068,0.001090802,0.0007357228,0.00005686755,0.00002514764,0.0001664831,0.00005881793,0.003159334],"genre_scores_gemma":[0.9991063,0.0001901002,0.0002097199,0.00006819201,0.00003879773,0.000001936012,0.0000604862,0.000003495237,0.0003208196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002129966,"threshold_uncertainty_score":0.007125437,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005467886190508033,"score_gpt":0.2044222624396081,"score_spread":0.1989543762491001,"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."}}