{"id":"W2584158952","doi":"10.1016/j.jacep.2016.11.013","title":"The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome","year":2017,"lang":"en","type":"article","venue":"JACC. Clinical electrophysiology","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto General Hospital; McMaster University; Population Health Research Institute; University of Toronto","funders":"","keywords":"Short QT syndrome; Medicine; Internal medicine; Cardiology; QT interval; Sudden cardiac death; Ventricular tachycardia; Penetrance; hERG; Ventricular fibrillation; Proband; Long QT syndrome; Potassium channel; Phenotype; Mutation; Genetics; Biology; Gene","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":[0.0001236307,0.001022615,0.0004324865,0.001120814,0.0003394139,0.0002549753,0.0003128666,0.0006894509,0.004323025],"category_scores_gemma":[0.0009883812,0.0001686957,0.0003005633,0.000397982,0.0005647205,0.000289229,0.0004214003,0.0003223311,0.000509509],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001275903,"about_ca_system_score_gemma":0.0001534873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006628099,"about_ca_topic_score_gemma":0.0005731469,"domain_scores_codex":[0.9998015,0.00002972338,0.00002416544,0.0000478542,0.00005745473,0.00003933606],"domain_scores_gemma":[0.9996201,0.0001721508,0.00006925373,0.00001625466,0.00003477315,0.00008745713],"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":[0.000940235,0.000127784,0.04239623,0.00009971606,0.00008824754,0.5274173,0.0006052312,0.0007912677,0.4079638,0.001245488,0.001145719,0.017179],"study_design_scores_gemma":[0.0001459543,0.0006807196,0.1984301,0.00006290703,0.0001893173,0.764443,0.0004857399,0.002238784,0.02988559,0.001693253,0.001693102,0.00005151616],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940407,0.0002961315,0.001264248,0.0002929457,0.0000338073,0.00002137591,0.0002254109,0.00004986741,0.003775607],"genre_scores_gemma":[0.9990583,0.00009387842,0.0003619061,0.00006038952,0.00002861007,0.000004264552,0.00006480624,0.00001434719,0.0003134655],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004323025,"threshold_uncertainty_score":0.01446199,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03935432125567934,"score_gpt":0.3841056411692673,"score_spread":0.344751319913588,"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."}}