{"id":"W1582745171","doi":"10.1159/000430189","title":"De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome","year":2015,"lang":"en","type":"article","venue":"Cellular Physiology and Biochemistry","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Natural Science Foundation of China","keywords":"Missense mutation; Brugada syndrome; Sodium channel; Nav1.5; HEK 293 cells; Mutation; Mutant; Western blot; Wild type; Molecular biology; Patch clamp; Biology; Transfection; Cell biology; Sudden death; Chemistry; Genetics; Internal medicine; Medicine; Gene; Electrophysiology; Sodium; Neuroscience","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":[0.0001502423,0.001230945,0.0004458238,0.0008087889,0.0004658323,0.0003172044,0.0004419357,0.001418012,0.002103493],"category_scores_gemma":[0.0008138472,0.0001981657,0.0005503629,0.0004486957,0.0006029719,0.0002058682,0.0005022886,0.0004924271,0.0004851981],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000360344,"about_ca_system_score_gemma":0.000246323,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001257673,"about_ca_topic_score_gemma":0.001292452,"domain_scores_codex":[0.9997675,0.00001740818,0.00004041806,0.00009126768,0.00005186595,0.00003162819],"domain_scores_gemma":[0.9995297,0.000129121,0.0001397268,0.00002253591,0.00003919279,0.0001397219],"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":[0.0002670922,0.0001287244,0.0480511,0.0001530691,0.0001289304,0.8341723,0.0005442706,0.0004908182,0.1090047,0.000446923,0.0008237394,0.00578839],"study_design_scores_gemma":[0.0001189372,0.0003654456,0.1207377,0.00008340197,0.0002149241,0.852441,0.0002327404,0.001820932,0.01927718,0.000348363,0.004311101,0.00004835422],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995027,0.0007309042,0.002015237,0.0002508666,0.0001663636,0.00004878192,0.0003539515,0.0001130775,0.001293712],"genre_scores_gemma":[0.9982073,0.0001941728,0.0008524214,0.000100047,0.00007171695,0.000008741073,0.0002078824,0.00001436119,0.0003432905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002103493,"threshold_uncertainty_score":0.007036924,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008302788970842571,"score_gpt":0.2145780589528216,"score_spread":0.206275269981979,"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."}}