{"id":"W4388271057","doi":"10.1016/j.jcjd.2023.10.043","title":"A MILD PHENOTYPE ASSOCIATED WITH KCNQ1 P.V205M MEDIATED LONG QT SYNDROME IN FIRST NATIONS CHILDREN OF NORTHERN BRITISH COLUMBIA: EFFECT OF ADDITIONAL VARIANTS AND CONSIDERATIONS FOR MANAGEMENT","year":2023,"lang":"en","type":"article","venue":"Canadian Journal of Diabetes","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Phenotype; Long QT syndrome; Genetics; Pediatrics; Internal medicine; QT interval; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003113757,0.001235803,0.0007730135,0.0007293581,0.001984931,0.0009180908,0.001020894,0.000889604,0.003231606],"category_scores_gemma":[0.002286803,0.0002094553,0.0003985988,0.0009898631,0.000997589,0.0002932878,0.0006078708,0.001189175,0.0002134894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002072208,"about_ca_system_score_gemma":0.004940092,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.4975804,"about_ca_topic_score_gemma":0.6575862,"domain_scores_codex":[0.9995759,0.00005955139,0.0000442583,0.00008532067,0.0001180991,0.0001169524],"domain_scores_gemma":[0.9990854,0.0002717575,0.0001773481,0.00002128807,0.0001372524,0.000306979],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000855097,0.0002196729,0.6489192,0.0002098555,0.0002234404,0.2915282,0.003218438,0.001049208,0.02568276,0.001562897,0.005147155,0.02138405],"study_design_scores_gemma":[0.00006019561,0.0001316662,0.9181852,0.0002166462,0.0001247702,0.0753742,0.002815706,0.0005953931,0.0004791225,0.0005069024,0.001450702,0.00005954812],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912019,0.0007327542,0.0003386071,0.002680192,0.00006443171,0.00002860539,0.0006411924,0.00003940397,0.004272927],"genre_scores_gemma":[0.9976757,0.0004236578,0.000730732,0.0003106661,0.00004171837,0.00001235628,0.0001524056,0.00002364614,0.0006290014],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5024196,"threshold_uncertainty_score":0.9893684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004691486963538323,"score_gpt":0.1900644763928205,"score_spread":0.1853729894292822,"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."}}