{"id":"W2026338021","doi":"10.1067/mhj.2000.106599","title":"A novel mutation in KVLQT1 , L122P, found in a family with autosomal dominant long QT syndrome","year":2000,"lang":"en","type":"article","venue":"American Heart Journal","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"","keywords":"Proband; Genetics; Transversion; Long QT syndrome; Mutation; Locus (genetics); Locus heterogeneity; Biology; Medicine; QT interval; Genetic heterogeneity; Gene; Internal medicine","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":[0.0002992815,0.003327831,0.001005204,0.002027017,0.00193619,0.0007562746,0.001562587,0.004915371,0.003331253],"category_scores_gemma":[0.00337877,0.0006329854,0.0009659216,0.001170204,0.001464705,0.00082201,0.0009578637,0.001604402,0.0008712038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006677411,"about_ca_system_score_gemma":0.000715944,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003722409,"about_ca_topic_score_gemma":0.002700534,"domain_scores_codex":[0.9994441,0.00006681979,0.00006295062,0.0002081554,0.0001255795,0.000092519],"domain_scores_gemma":[0.9980539,0.0008334158,0.0003187573,0.00006639346,0.0001319536,0.0005956534],"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":[0.0001343974,0.00004749145,0.004210042,0.00002706368,0.00002203256,0.9811437,0.0004240928,0.00017381,0.01153708,0.0001970853,0.000475342,0.001607794],"study_design_scores_gemma":[0.0001116453,0.000243372,0.01594343,0.00002470446,0.00009917992,0.9764091,0.0002072415,0.000946707,0.004456635,0.0003367241,0.001165467,0.00005579323],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889793,0.0007356204,0.003347169,0.00179248,0.0003265843,0.00006829005,0.0006085709,0.0002348137,0.003907057],"genre_scores_gemma":[0.9968327,0.0001356913,0.0009921289,0.000299319,0.0002334333,0.00002174714,0.0001379206,0.0000462873,0.00130084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004915371,"threshold_uncertainty_score":0.0111441,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009477436819272989,"score_gpt":0.2685651968147345,"score_spread":0.2590877599954615,"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."}}