{"id":"W2076944129","doi":"10.1161/circulationaha.110.987248","title":"Striking In Vivo Phenotype of a Disease-Associated Human <i>SCN5A</i> Mutation Producing Minimal Changes in Vitro","year":2011,"lang":"en","type":"article","venue":"Circulation","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":139,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Vanderbilt University Medical Center; Fondation Leducq; National Cancer Institute; National Institutes of Health; National Eye Institute; Vanderbilt University","keywords":"Medicine; Phenotype; Mutation; In vivo; In vitro; Clinical phenotype; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002644748,0.0004373559,0.0002338445,0.0001485736,0.0001519777,0.000274695,0.0002195953,0.0003756477,0.001641218],"category_scores_gemma":[0.0001986121,0.0001490856,0.0002909664,0.00008772273,0.000237214,0.0001019473,0.0002389692,0.0005132637,0.0008912766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003324657,"about_ca_system_score_gemma":0.0001785748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001258904,"about_ca_topic_score_gemma":0.001220998,"domain_scores_codex":[0.9997048,0.00005812614,0.00004005267,0.00008173073,0.00007333041,0.0000420354],"domain_scores_gemma":[0.9997737,0.00007177102,0.00004525527,0.00003341876,0.00001749853,0.00005831883],"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":[0.00002243132,0.00001197072,0.00009100069,0.000009397432,0.000003022245,0.00004057065,0.000005385818,0.00002934037,0.9995473,0.00003191346,0.00002835861,0.0001793639],"study_design_scores_gemma":[0.00001767653,0.0003003213,0.004575311,0.000007162954,0.00001814165,0.0009180389,0.00002295056,0.001641718,0.9908082,0.00004653448,0.001638735,0.000005198483],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890733,0.0007784902,0.006154311,0.0001700712,0.00008329784,0.00003794498,0.00109547,0.0001646081,0.002442589],"genre_scores_gemma":[0.9913247,0.0003791621,0.003779516,0.0001141323,0.00001570612,0.00004396552,0.001968855,0.00007725333,0.002296706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001641218,"threshold_uncertainty_score":0.005490422,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02412705437295846,"score_gpt":0.255132886220942,"score_spread":0.2310058318479836,"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."}}