{"id":"W2048477858","doi":"10.1016/j.hrthm.2009.08.009","title":"Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: Evidence for clinically significant IKr-IKs α-subunit interaction","year":2009,"lang":"en","type":"article","venue":"Heart Rhythm","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Heart Institute; McGill University","funders":"Canadian Institutes of Health Research; Agence Nationale de la Recherche; Heart And Stroke Foundation Of Quebec; Institut National de la Santé et de la Recherche Médicale; Deutsche Forschungsgemeinschaft","keywords":"Missense mutation; Long QT syndrome; Phenotype; Mutant; hERG; Transfection; Mutation; Cell biology; HEK 293 cells; In vivo; Biology; Membrane protein; Molecular biology; Genetics; Medicine; Gene; Internal medicine; Endocrinology; Membrane; Potassium channel; QT interval","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001517439,0.001215085,0.0005467807,0.0004240612,0.0003224509,0.0002844838,0.0004492521,0.001008003,0.003904267],"category_scores_gemma":[0.0007962784,0.0002277167,0.0003143013,0.0001859247,0.001018701,0.0003858101,0.0004999447,0.0006221961,0.001003797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002255324,"about_ca_system_score_gemma":0.0002622593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006584301,"about_ca_topic_score_gemma":0.0008043396,"domain_scores_codex":[0.9998156,0.00003686393,0.00003644439,0.00004270531,0.0000422483,0.00002612025],"domain_scores_gemma":[0.9994588,0.0001545313,0.0001709971,0.0000373558,0.00003305446,0.0001452585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008869429,0.0001256505,0.007840853,0.0001281863,0.00006757658,0.1423184,0.0003134051,0.0003192463,0.842467,0.0005969995,0.0008631773,0.004072701],"study_design_scores_gemma":[0.00077479,0.001613038,0.1257364,0.0001142912,0.0003693913,0.5496061,0.0006076877,0.005865095,0.3067606,0.002310939,0.006114053,0.000127689],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956322,0.0003061701,0.001360506,0.0003815907,0.00008324524,0.00002618686,0.0003185737,0.00008724766,0.001804269],"genre_scores_gemma":[0.9983546,0.00011181,0.0004703722,0.00009533334,0.00003649351,0.00001189699,0.0001852189,0.00003576491,0.0006985347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003904267,"threshold_uncertainty_score":0.01306105,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04470304610251082,"score_gpt":0.3686016914819499,"score_spread":0.3238986453794391,"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."}}