{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003641048,0.0002006614,0.000451449,0.0002523473,0.00003356822,0.00001294425,0.00007777402,0.0001410719,0.0002508757],"category_scores_gemma":[0.0001376042,0.0001864832,0.00008396055,0.0006646246,0.0000422904,0.0001100233,0.00008311697,0.000597607,0.002001551],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001500595,"about_ca_system_score_gemma":0.0001518118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006016163,"about_ca_topic_score_gemma":0.00006601724,"domain_scores_codex":[0.9983374,0.0002729487,0.0002755765,0.0004393696,0.0001803267,0.0004944017],"domain_scores_gemma":[0.9993201,0.00006025727,0.00007690412,0.0004033252,0.00004719145,0.00009224752],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001864065,0.0002890266,0.1047013,0.0004105309,0.00009965953,0.03920265,0.001220849,0.000729989,0.8495184,0.00009963459,0.0007632005,0.001100604],"study_design_scores_gemma":[0.01018264,0.00225926,0.9645422,0.001476293,0.0001086494,0.007022941,0.0001731716,0.002028787,0.009084515,0.00009351315,0.002001676,0.001026432],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962254,0.000436987,0.00001548008,0.0005219564,0.0003531246,0.0009296445,0.000008538926,0.00004701598,0.001461912],"genre_scores_gemma":[0.9915819,0.00004844304,0.0001263038,0.0002357387,0.00009563148,0.0000170814,0.00003571277,0.00004595104,0.00781322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8598408,"threshold_uncertainty_score":0.9987755,"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."}}