{"id":"W1986305750","doi":"10.1016/j.hrthm.2014.04.026","title":"Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation","year":2014,"lang":"en","type":"article","venue":"Heart Rhythm","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":21,"is_retracted":false,"has_abstract":false,"ca_institutions":"Institut Universitaire en Santé Mentale de Québec","funders":"","keywords":"Medicine; Brugada syndrome; Myotonic dystrophy; Sodium channel; Nav1.5; Phenotype; Myotonia; Loss function; Mutation; Missense mutation; Genetics; Internal medicine; Cardiology; Sodium; Gene; 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":[],"consensus_categories":[],"category_scores_codex":[0.00009205836,0.0001747947,0.0001901974,0.00006834108,0.0001368563,0.00004244371,0.00006517657,0.00006688717,0.0000347882],"category_scores_gemma":[0.0003464637,0.0001730507,0.00003730897,0.0002456645,0.0001136085,0.0001218515,0.00005120464,0.0001144423,0.00006801938],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001733828,"about_ca_system_score_gemma":0.00005115299,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002887459,"about_ca_topic_score_gemma":0.000004294483,"domain_scores_codex":[0.9986594,0.0001850409,0.0002140355,0.0004478709,0.0002470897,0.0002465579],"domain_scores_gemma":[0.9992885,0.0001393919,0.0001029127,0.0002518911,0.0001051423,0.0001121424],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00009768347,0.00006810694,0.0002186398,0.00005166685,0.00000417892,0.000002843512,0.0001226731,0.0001206925,0.9976703,0.0004755947,0.000546107,0.0006215263],"study_design_scores_gemma":[0.0004595287,0.0005962938,0.005384173,0.00002131541,0.00002326728,0.00005636815,0.00002289585,0.003160999,0.9876273,0.0009105006,0.001532072,0.0002052834],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981552,0.000142885,0.0003978531,0.0002874465,0.000569671,0.0002515059,0.00001565821,0.00005529268,0.0001244636],"genre_scores_gemma":[0.998799,0.00003688946,0.0001280713,0.0007191135,0.0001158011,0.00001721872,0.00001251384,0.00003067715,0.0001406934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01004298,"threshold_uncertainty_score":0.7056803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02258667260443942,"score_gpt":0.2505377746679682,"score_spread":0.2279511020635288,"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."}}