{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003707531,0.0003549019,0.0003065872,0.0004480285,0.0001802568,0.000190887,0.0004229358,0.0004813041,0.003759766],"category_scores_gemma":[0.001013633,0.00009842979,0.0002116104,0.0002466859,0.0003786623,0.0002599333,0.0002047488,0.0003515137,0.0004267797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001079949,"about_ca_system_score_gemma":0.0001031424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006754948,"about_ca_topic_score_gemma":0.0006305661,"domain_scores_codex":[0.9997165,0.00005814928,0.0000354084,0.0001114576,0.00003780545,0.00004072188],"domain_scores_gemma":[0.9995325,0.0001982013,0.0001410637,0.00005092425,0.00003134881,0.00004601294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.000560221,0.0001054359,0.09431409,0.0002285168,0.00008990675,0.0103379,0.0005389784,0.0004885311,0.875857,0.002010902,0.0002765562,0.0151919],"study_design_scores_gemma":[0.0001416219,0.001108469,0.5902149,0.0001162156,0.0003383,0.09465958,0.0004795491,0.005976744,0.2938549,0.003451327,0.009601705,0.00005659473],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920333,0.0008355967,0.005576133,0.0002414659,0.00002065416,0.00001145417,0.0002226158,0.00006729199,0.0009914325],"genre_scores_gemma":[0.998525,0.0001255662,0.0009073451,0.00005005327,0.00000777211,0.000004546473,0.00008625078,0.0000121604,0.0002813533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003759766,"threshold_uncertainty_score":0.01257771,"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."}}