{"id":"W2969059633","doi":"10.1093/europace/euz215","title":"Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site","year":2019,"lang":"en","type":"article","venue":"EP Europace","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Jubilee Hospital; BC Children's Hospital; University of Toronto; Western University; University of Alberta; Queen's University; Hospital for Sick Children; University of British Columbia","funders":"","keywords":"Medicine; Pathogenicity; Long QT syndrome; Genetic variants; Genetics; QT interval; Gene; Internal medicine; Genotype; Biology","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":[0.0001295815,0.0005633238,0.0002656572,0.0003614,0.0002681314,0.0001636885,0.0002373597,0.0004655893,0.002985303],"category_scores_gemma":[0.0007307506,0.00008613796,0.0002914287,0.0003033445,0.0002787649,0.0001060408,0.0001823638,0.0002899855,0.0003658942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001653764,"about_ca_system_score_gemma":0.0001161212,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000823108,"about_ca_topic_score_gemma":0.0008204851,"domain_scores_codex":[0.9998851,0.00002169181,0.00001559553,0.00003426598,0.00003095169,0.00001238882],"domain_scores_gemma":[0.999772,0.00007746878,0.00008191352,0.00001315288,0.00001924283,0.00003631731],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002673943,0.0001619914,0.4393863,0.0002681009,0.0003279687,0.195856,0.001061708,0.003065983,0.3317047,0.00119885,0.001706535,0.02258787],"study_design_scores_gemma":[0.0004363198,0.001001982,0.6307347,0.0001167175,0.0003245872,0.3218639,0.0004020547,0.01147821,0.02849761,0.001313737,0.003771538,0.00005857927],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983457,0.0001952728,0.0009938872,0.00005060604,0.0000111991,0.000008684846,0.00008386204,0.00002501356,0.0002857327],"genre_scores_gemma":[0.9991249,0.00004558614,0.0004872693,0.00003069488,0.00002017978,0.000005465422,0.000100155,0.000006808239,0.0001789108],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002985303,"threshold_uncertainty_score":0.009986818,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007329590921610023,"score_gpt":0.2380628023699803,"score_spread":0.2307332114483702,"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."}}