{"id":"W3121826552","doi":"10.1113/ep089088","title":"<i>SCN5A</i>‐C683R exhibits combined gain‐of‐function and loss‐of‐function properties related to adrenaline‐triggered ventricular arrhythmia","year":2021,"lang":"en","type":"article","venue":"Experimental Physiology","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; St. Paul's Hospital; Université Laval; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"","keywords":"Brugada syndrome; Phenotype; Electrophysiology; Long QT syndrome; Internal medicine; Loss function; Cardiac arrhythmia; Mutation; Short QT syndrome; Cardiology; Biology; Medicine; Genetics; QT interval; Gene; Atrial fibrillation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008606334,0.0002487227,0.000731763,0.0001256816,0.00009125614,0.000004470854,0.00004405451,0.0002137565,0.0001608391],"category_scores_gemma":[0.00007457225,0.0002155118,0.0002187797,0.0003863314,0.0002337777,0.00007986589,0.0001093256,0.0002240572,0.00003069421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005522407,"about_ca_system_score_gemma":0.0001047147,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000179583,"about_ca_topic_score_gemma":6.626423e-7,"domain_scores_codex":[0.9983673,0.0001759707,0.0004865815,0.0004942057,0.0001691897,0.0003067688],"domain_scores_gemma":[0.999112,0.00005203145,0.00016969,0.0003438222,0.0001961443,0.0001263849],"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":[0.004286454,0.0003001434,0.0002211851,0.00008805915,0.0003243346,0.0001749655,0.0002218101,0.000153145,0.9926,0.0009118044,0.000348158,0.0003699828],"study_design_scores_gemma":[0.003131217,0.003104462,0.03156014,0.0001476623,0.0001443921,0.000567239,0.0003026708,0.000073638,0.9596417,0.0007471196,0.0003608901,0.000218871],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923963,0.006033138,0.00002708177,0.0002930785,0.0005083292,0.0004383042,0.000007490368,0.00005492779,0.0002413521],"genre_scores_gemma":[0.9986743,0.0000923792,0.0001011559,0.0003857297,0.00023169,0.0000571181,0.0001535,0.00002989651,0.000274172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03295826,"threshold_uncertainty_score":0.8788318,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008480354935918729,"score_gpt":0.2366704933318923,"score_spread":0.2281901383959735,"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."}}