{"id":"W2097343081","doi":"10.1111/cge.12235","title":"<scp>LQTS</scp> in Northern <scp>BC</scp>: homozygosity for <i><scp>KCNQ1</scp></i><scp>V205M</scp> presents with a more severe cardiac phenotype but with minimal impact on auditory function","year":2013,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Children's & Women's Health Centre of British Columbia; University of Victoria; Island Health","funders":"Canadian Institutes of Health Research; Michael Smith Health Research BC","keywords":"Long QT syndrome; Phenotype; QT interval; Mutation; Internal medicine; Medicine; Sensorineural hearing loss; Hearing loss; Genetics; Heart failure; Cardiology; Endocrinology; Biology; Gene; Audiology","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","research_integrity"],"consensus_categories":["metaepi_narrow","research_integrity"],"category_scores_codex":[0.0009428192,0.001278785,0.002407313,0.000326144,0.0004026651,0.0001216161,0.0005355739,0.001408695,0.00001264434],"category_scores_gemma":[0.003773978,0.0009792276,0.001221783,0.0008391202,0.0009839445,0.0002572103,0.0002853467,0.002308337,0.0005310694],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003099109,"about_ca_system_score_gemma":0.001069803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002093167,"about_ca_topic_score_gemma":0.0002213404,"domain_scores_codex":[0.9925495,0.0006555741,0.001553887,0.001972883,0.001132691,0.002135491],"domain_scores_gemma":[0.9872643,0.007902002,0.0008610614,0.00178155,0.0009788269,0.001212195],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009576193,0.002705897,0.787957,0.0005271981,0.003391984,0.0004574286,0.001453062,0.006698333,0.005267975,0.00002527928,0.1835636,0.006994606],"study_design_scores_gemma":[0.008194108,0.01388059,0.9349468,0.0003486025,0.001479112,0.000147608,0.00136521,0.0009088709,0.002034465,0.0003426362,0.03615584,0.0001960876],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884405,0.001775267,0.0003731551,0.0001434404,0.001800834,0.003585577,0.000280903,0.0002560105,0.003344298],"genre_scores_gemma":[0.9792786,0.0008668498,0.001029285,0.001394451,0.006231411,0.0005575795,0.0005103184,0.0003279021,0.00980361],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1474078,"threshold_uncertainty_score":0.9999964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01642902145621059,"score_gpt":0.2891548191455913,"score_spread":0.2727257976893808,"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."}}