{"id":"W4311367293","doi":"10.3390/ph15121550","title":"A Possible Explanation for the Low Penetrance of Pathogenic KCNE1 Variants in Long QT Syndrome Type 5","year":2022,"lang":"en","type":"article","venue":"Pharmaceuticals","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Research, Development and Innovation Office; Emberi Eroforrások Minisztériuma; Nemzeti Kutatási és Technológiai Hivatal; Magyar Tudományos Akadémia","keywords":"Long QT syndrome; Penetrance; Mutant; Protein subunit; Potassium channel; Phenotype; Heterologous; Ectopic expression; Cell biology; Biology; Ion channel; Heterologous expression; HEK 293 cells; QT interval; Genetics; Medicine; Receptor; Internal medicine; Biophysics; Gene; Recombinant DNA","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":[],"consensus_categories":[],"category_scores_codex":[0.000434916,0.00007631863,0.0002200745,0.00006625422,0.00009380875,0.000003000152,0.00008001043,0.00003081388,0.0003757931],"category_scores_gemma":[0.00008945928,0.00006018281,0.00009236534,0.0003174925,0.00004475876,0.00003294815,0.00003799392,0.0002342675,0.000008914997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004660233,"about_ca_system_score_gemma":0.00009249581,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004770038,"about_ca_topic_score_gemma":0.000001428019,"domain_scores_codex":[0.9991737,0.00009684931,0.0001966063,0.0001653772,0.0001515715,0.0002159065],"domain_scores_gemma":[0.9993981,0.0003085124,0.00005022996,0.0001574007,0.00004313345,0.00004258722],"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":[0.01004816,0.00141253,0.01389291,0.0009764428,0.0009111429,0.003743625,0.001255778,0.006672234,0.9162155,0.004508008,0.002324142,0.03803947],"study_design_scores_gemma":[0.0179957,0.003030244,0.804145,0.0002396072,0.00123199,0.009110545,0.0004066342,0.04192369,0.1111085,0.003557678,0.006477851,0.0007725938],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994441,0.002970214,0.0002537924,0.001129356,0.0002808491,0.0007125917,0.00003549669,0.00001550982,0.0001612054],"genre_scores_gemma":[0.9985061,0.0002540115,0.00006559073,0.0007337984,0.00006182598,0.000149902,0.00002574357,0.00001214325,0.0001908727],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8051071,"threshold_uncertainty_score":0.4114671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03369537895860529,"score_gpt":0.3467752769445579,"score_spread":0.3130798979859526,"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."}}