{"id":"W2533344724","doi":"10.15252/emmm.201505719","title":"TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT","year":2016,"lang":"en","type":"article","venue":"EMBO Molecular Medicine","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":133,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Swiss Institute of Bioinformatics; Institut de Cardiologie de Montréal; Nederlandse Federatie van Universitair Medische Centra; Universitätsspital Zürich; Universität Zürich; Centre Hospitalier Universitaire Vaudois; Hospital for Sick Children; Université de Montréal; Leids Universitair Medisch Centrum; Schweizerische Herzstiftung; University of Toronto; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Koninklijke Nederlandse Akademie van Wetenschappen; European Research Council; McMaster University; National Institute of Advanced Industrial Science and Technology; Helsingin ja Uudenmaan Sairaanhoitopiiri; Fondation Leenaards; Helsingin Yliopisto; Hartstichting; Universidad de Chile; Universitätsspital Basel; American University of Beirut; ZonMw; Albert-Ludwigs-Universität Freiburg; Kaiser Permanente; National Science Foundation","keywords":"Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor 2; SERCA; Sudden death; Internal medicine; Medicine; Sudden cardiac death; Long QT syndrome; Afterdepolarization; Tachycardia; Exome sequencing; Repolarization; Proband; Endocrinology; Ryanodine receptor; Mutation; Calcium; Chemistry; Biology; Gene; QT interval; Genetics; Electrophysiology; Biochemistry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.000113886,0.0003839063,0.0002477253,0.0004760306,0.0003825387,0.0003095351,0.0001831924,0.0004654431,0.001417069],"category_scores_gemma":[0.0003842025,0.000100431,0.0002378309,0.0002987153,0.0003024314,0.0001168489,0.0002864417,0.0002704495,0.0001211552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002921709,"about_ca_system_score_gemma":0.0003007987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003847828,"about_ca_topic_score_gemma":0.005899651,"domain_scores_codex":[0.9998727,0.000009821968,0.00001391095,0.00004388244,0.00003221709,0.00002747676],"domain_scores_gemma":[0.9998041,0.00005136189,0.00004790693,0.00001449151,0.00002774886,0.00005439309],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007417526,0.0001498258,0.1942347,0.0001172941,0.0001609022,0.4043984,0.001062434,0.0007934553,0.3704851,0.000889032,0.000824867,0.02614243],"study_design_scores_gemma":[0.0001382046,0.0003078278,0.5060772,0.00005014712,0.0001840426,0.4639772,0.0006502303,0.003201026,0.020906,0.0004625072,0.004001533,0.00004407614],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979367,0.0001561812,0.0008316935,0.00007865545,0.000007748089,0.00001422673,0.000153201,0.00002550449,0.000796071],"genre_scores_gemma":[0.9989904,0.00004644061,0.0004023384,0.00004727535,0.00001168502,0.000002697358,0.0001747235,0.000004480033,0.0003200484],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003847828,"threshold_uncertainty_score":0.007650852,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01621729185926267,"score_gpt":0.2838177242476458,"score_spread":0.2676004323883832,"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."}}