{"id":"W4380886788","doi":"10.1016/j.xhgg.2023.100213","title":"Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institutes of Health; National Heart, Lung, and Blood Institute; University of Washington","keywords":"MYH7; Sarcomere; Skeletal muscle; Actin; Biology; Cardiac muscle; Myosin; Cardiomyopathy; Tropomyosin; Missense mutation; MYH6; Myocyte; Arthrogryposis; Genetics; Internal medicine; Gene; Anatomy; Medicine; Cell biology; Phenotype; Heart failure; Myosin light-chain kinase","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":[0.0001164951,0.0001693051,0.0003490406,0.00009933858,0.0001745139,0.00004403001,0.00005140783,0.00005593271,0.00001018386],"category_scores_gemma":[0.00001171798,0.0001668659,0.00007185922,0.0001664763,0.0001408454,0.00004306907,0.0001104159,0.0001062448,0.00001468524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003621233,"about_ca_system_score_gemma":0.00002686134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001157639,"about_ca_topic_score_gemma":0.0001663889,"domain_scores_codex":[0.9990082,0.00001996284,0.0002228258,0.0003148707,0.0001241306,0.0003099778],"domain_scores_gemma":[0.9996001,0.00005221571,0.00004333738,0.0001694413,0.00003054114,0.0001043727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004456277,0.0005244308,0.5586102,0.0004509009,0.0006159951,0.0003171751,0.004707857,0.0003677729,0.382607,0.001987866,0.007127086,0.04223806],"study_design_scores_gemma":[0.003091302,0.0005220808,0.9000937,0.00006120875,0.0001614973,0.00006995627,0.001869479,0.0002031615,0.005074078,0.002579455,0.08577795,0.0004961411],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9823668,0.01593068,0.0000247824,0.0001397163,0.0001530258,0.000279902,0.00005694178,0.00004363068,0.001004497],"genre_scores_gemma":[0.9915456,0.007702017,0.0001737553,0.0001471707,0.0001135264,0.00002271322,0.00006436846,0.00002451679,0.0002062933],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3775329,"threshold_uncertainty_score":0.6804592,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02177106713656063,"score_gpt":0.2877996301291127,"score_spread":0.2660285629925521,"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."}}