{"id":"W4367303219","doi":"10.1212/wnl.0000000000204234","title":"Novel ACTA1 Mutation in a Family with Congenital Myopathy and Variably-penetrant Cardiomyopathy (P6-8.008)","year":2023,"lang":"en","type":"article","venue":"Neurology","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Proband; Medicine; Dilated cardiomyopathy; Cardiomyopathy; Internal medicine; Congenital myopathy; Cardiology; Nemaline myopathy; Missense mutation; Myopathy; Muscle biopsy; Heart failure; Genetics; Biopsy; Mutation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002973529,0.001965323,0.0004560037,0.001147595,0.001297462,0.0003861389,0.0007819307,0.002528622,0.003912151],"category_scores_gemma":[0.001113048,0.0004349248,0.0005616201,0.0006012445,0.001044357,0.000407999,0.0008211511,0.001270053,0.001138095],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005105846,"about_ca_system_score_gemma":0.000398069,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002114373,"about_ca_topic_score_gemma":0.002066697,"domain_scores_codex":[0.9997159,0.00003404321,0.00003415013,0.0001052229,0.00005263014,0.00005802859],"domain_scores_gemma":[0.9993221,0.0002226696,0.0001285271,0.00002926025,0.00004189786,0.0002555555],"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":[0.0001172006,0.00009336948,0.007694396,0.00002819327,0.00001772663,0.9776728,0.0002910469,0.0001734776,0.01129219,0.0002373916,0.0006410605,0.001741029],"study_design_scores_gemma":[0.00004470808,0.0002198088,0.024091,0.00002366033,0.00004262195,0.969897,0.0001224842,0.0005201114,0.003553564,0.0001980966,0.001265581,0.00002134188],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903678,0.000865145,0.001664204,0.001401414,0.0001696475,0.00006276689,0.0003847161,0.0001082837,0.00497603],"genre_scores_gemma":[0.9951249,0.0002417375,0.001248852,0.0004014699,0.0001839894,0.00002603703,0.0001504196,0.00003010204,0.002592602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003912151,"threshold_uncertainty_score":0.01308745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0171326295641781,"score_gpt":0.2423197714260709,"score_spread":0.2251871418618928,"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."}}