{"id":"W2682847713","doi":"10.1002/humu.23282","title":"Heterozygous variants in<i>ACTL6A</i>, encoding a component of the BAF complex, are associated with intellectual disability","year":2017,"lang":"en","type":"article","venue":"Human Mutation","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Research Resources; National Institute of General Medical Sciences; National Human Genome Research Institute; ZonMw; ACMG Foundation for Genetic and Genomic Medicine; National Cancer Institute; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Osteogenesis Imperfecta Foundation","keywords":"Intellectual disability; Biology; Missense mutation; Genetics; RNA splicing; Gene; Mutation; Chromatin remodeling; Chromatin","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":[0.0002912281,0.002114406,0.0005360086,0.001623299,0.0009390363,0.0005862525,0.0004901362,0.001212132,0.002877662],"category_scores_gemma":[0.001109323,0.000373227,0.000433497,0.0007871399,0.001208755,0.0002440596,0.0004485614,0.0007468918,0.000561505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002272511,"about_ca_system_score_gemma":0.00024199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002017116,"about_ca_topic_score_gemma":0.001835515,"domain_scores_codex":[0.9995657,0.00007186059,0.00004733669,0.0001456912,0.00009739173,0.00007209507],"domain_scores_gemma":[0.9991922,0.0002599812,0.0002906,0.00003720641,0.00004810535,0.0001718862],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002045644,0.0006399592,0.3855615,0.0001930228,0.0005288803,0.2689964,0.002167897,0.0009860855,0.3168439,0.001659668,0.002266166,0.01811074],"study_design_scores_gemma":[0.0002279812,0.001535775,0.5121325,0.0001003441,0.0004756928,0.4391261,0.0007968801,0.001992988,0.03789736,0.001104999,0.004493598,0.000115668],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978422,0.0001708617,0.0006585632,0.0001312446,0.00002287465,0.0000202031,0.0002238209,0.00005847277,0.0008717983],"genre_scores_gemma":[0.9984142,0.00009294542,0.0004994394,0.0000833697,0.00004845838,0.000009909366,0.0001780322,0.00002378376,0.0006500212],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002877662,"threshold_uncertainty_score":0.009626687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04024374061777215,"score_gpt":0.2933457975180136,"score_spread":0.2531020569002415,"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."}}