{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001134814,0.0004752254,0.000403342,0.0006780457,0.001403518,0.0004045962,0.0002276195,0.0003784946,0.003696571],"category_scores_gemma":[0.0005493328,0.0001391818,0.0002030874,0.0005767616,0.0006987955,0.0001095656,0.0005256179,0.0004553135,0.0007908778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009684741,"about_ca_system_score_gemma":0.0006070787,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07809197,"about_ca_topic_score_gemma":0.09519117,"domain_scores_codex":[0.9997345,0.00002639323,0.00001880112,0.00007141427,0.00009063884,0.00005822941],"domain_scores_gemma":[0.9997577,0.00002287332,0.00004753091,0.00001587992,0.00004284631,0.0001130883],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001258444,0.0004479145,0.5276445,0.0001553089,0.000165826,0.1231813,0.003325532,0.0002549521,0.3050959,0.0004300373,0.002996605,0.03504363],"study_design_scores_gemma":[0.00003222075,0.0002671313,0.9036113,0.00002749988,0.00004509753,0.08751669,0.0007578809,0.0003082131,0.004699023,0.00007760519,0.002628826,0.00002833693],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969312,0.00009559609,0.0002159425,0.00006075101,0.000006364705,0.0000214958,0.0001474219,0.00002059179,0.002500497],"genre_scores_gemma":[0.9982057,0.0001119277,0.0003112791,0.00006027288,0.000007286966,0.00001184019,0.0002512261,0.00001468189,0.001025908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.921908,"threshold_uncertainty_score":0.1552749,"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."}}