{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001073677,0.0002752896,0.0008700991,0.0001131056,0.0001510173,0.00002258021,0.00006899684,0.0003049637,0.0001515862],"category_scores_gemma":[0.0006604947,0.0002540684,0.000483781,0.0002904613,0.000192831,0.0001841319,0.00002138573,0.0004326962,0.00005037991],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001368653,"about_ca_system_score_gemma":0.0003101229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001530239,"about_ca_topic_score_gemma":0.000002628701,"domain_scores_codex":[0.9970063,0.0002737121,0.001298349,0.0006092646,0.0003794352,0.0004329198],"domain_scores_gemma":[0.997574,0.0009535163,0.0003913112,0.0004287149,0.000429429,0.0002230661],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.1409641,0.02626371,0.02711059,0.009338206,0.005482831,0.01717958,0.008878499,0.1823404,0.1146492,0.004705346,0.1321724,0.3309151],"study_design_scores_gemma":[0.05168119,0.1681337,0.3879987,0.0162287,0.006548666,0.1016991,0.002973821,0.1722513,0.05862197,0.001857608,0.02579242,0.006212842],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9796079,0.0004115108,0.0148832,0.002696578,0.0006674632,0.001487877,0.00002143301,0.0001204989,0.0001035902],"genre_scores_gemma":[0.9962289,0.0002638569,0.000657373,0.002039959,0.0003444766,0.00004491183,0.0001948919,0.00003056946,0.0001951157],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3608882,"threshold_uncertainty_score":0.9999912,"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."}}