{"id":"W3134666582","doi":"10.1007/s10142-021-00778-9","title":"Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients","year":2021,"lang":"en","type":"article","venue":"Functional & Integrative Genomics","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Bone and Joint Health Institute","funders":"","keywords":"Brugada syndrome; Frameshift mutation; Missense mutation; Proband; Nonsense; Biology; Nonsense mutation; Genetics; Sudden cardiac death; Sudden death; Internal medicine; Medicine; Exon; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001167564,0.0001668573,0.000428524,0.0001308319,0.00005381231,0.000007877896,0.00004589209,0.000120512,0.0003048558],"category_scores_gemma":[0.0001944232,0.0001479019,0.0001973087,0.000329553,0.00009393174,0.00008031242,0.000049501,0.0003409093,0.00005100877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002183605,"about_ca_system_score_gemma":0.0003049235,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006201609,"about_ca_topic_score_gemma":0.000133562,"domain_scores_codex":[0.9988539,0.0000608594,0.0003547587,0.0003337483,0.0001813816,0.0002153243],"domain_scores_gemma":[0.999186,0.0001083949,0.0001071938,0.0001979218,0.0003320425,0.00006848375],"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":[0.004922968,0.003317131,0.04938122,0.0001644384,0.00153745,0.001711519,0.001871448,0.000710982,0.9112476,0.01896713,0.002574026,0.003594065],"study_design_scores_gemma":[0.003114183,0.0004425474,0.9880756,0.0001295504,0.00008166988,0.0007759469,0.0003441733,0.0001337105,0.00521809,0.0008907986,0.0006195302,0.0001742284],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956529,0.0001421636,0.001737177,0.0001354564,0.0006992304,0.000212489,0.0001093611,0.00001235849,0.001298896],"genre_scores_gemma":[0.99673,0.00003053975,0.001117706,0.0003822446,0.0001226591,0.00001991014,0.000509161,0.00001826682,0.001069534],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9386944,"threshold_uncertainty_score":0.6031266,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01261225647737808,"score_gpt":0.2309417727969053,"score_spread":0.2183295163195272,"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."}}