{"id":"W2415037494","doi":"","title":"The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family.","year":2000,"lang":"en","type":"article","venue":"PubMed","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"","keywords":"hERG; Missense mutation; QT interval; Medicine; Long QT syndrome; Torsades de pointes; Mutation; Sudden death; Mutant; Short QT syndrome; Genetics; Potassium channel; Internal medicine; Cardiology; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001853462,0.002133908,0.0005597381,0.001762642,0.005603799,0.0006387329,0.0008923821,0.001895966,0.005066251],"category_scores_gemma":[0.001092724,0.000488223,0.0007919355,0.001363868,0.001526586,0.0002511336,0.0007584977,0.001108624,0.0004816137],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008042057,"about_ca_system_score_gemma":0.007942791,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7975684,"about_ca_topic_score_gemma":0.831549,"domain_scores_codex":[0.9995642,0.00002421724,0.0000169803,0.0001126111,0.0001240329,0.0001578617],"domain_scores_gemma":[0.9995694,0.00007995714,0.00005197029,0.00001440472,0.00008797199,0.0001963788],"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":[0.0004236758,0.0003244965,0.1446414,0.0001815282,0.0001643938,0.7717804,0.007335521,0.000723028,0.02487507,0.00305932,0.008705029,0.0377863],"study_design_scores_gemma":[0.0001411567,0.0004014151,0.2734457,0.000142949,0.0002715864,0.6995993,0.004370629,0.001513562,0.003224466,0.0006797099,0.01595282,0.0002567061],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.985929,0.001156105,0.00083195,0.002268929,0.000106586,0.00008405955,0.0007902033,0.00008074983,0.008752314],"genre_scores_gemma":[0.9922011,0.0006502927,0.001120515,0.0006360071,0.0000474627,0.00001957396,0.0002899549,0.00003290657,0.00500213],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2024316,"threshold_uncertainty_score":0.4072475,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01376545106211582,"score_gpt":0.211678683773326,"score_spread":0.1979132327112102,"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."}}