{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002840404,0.002101399,0.0003805772,0.001793395,0.0007476474,0.0003191887,0.0005705114,0.001038661,0.002642639],"category_scores_gemma":[0.001072569,0.0002223097,0.0002731023,0.001160296,0.0009800713,0.0001786939,0.000575478,0.0005831181,0.0004737358],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000463757,"about_ca_system_score_gemma":0.0004647692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001980366,"about_ca_topic_score_gemma":0.003123659,"domain_scores_codex":[0.9995944,0.00006157646,0.00003236948,0.0001348301,0.0001368723,0.00003987906],"domain_scores_gemma":[0.999247,0.0002333958,0.0003103676,0.00002527441,0.00004222,0.0001417527],"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":[0.001040107,0.0001996773,0.1902752,0.0004519572,0.0004457677,0.3682099,0.001426307,0.001934052,0.3896556,0.004793793,0.004897497,0.03667017],"study_design_scores_gemma":[0.0001399406,0.0004569422,0.3314344,0.000205425,0.0004722549,0.605779,0.0004155894,0.002643397,0.04440816,0.001359661,0.01260541,0.00007979148],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9843179,0.002753542,0.004497791,0.0006423576,0.00009978152,0.00008292067,0.0008157922,0.0001931841,0.006596735],"genre_scores_gemma":[0.9957496,0.0009247235,0.001502631,0.0001656672,0.00009589371,0.000020846,0.0003733938,0.00002476031,0.001142465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002642639,"threshold_uncertainty_score":0.008840501,"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."}}