{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001420736,0.00007425192,0.0001057022,0.000008596176,0.0002043946,0.00002634454,0.0001662064,0.00005092124,0.00001615763],"category_scores_gemma":[0.0001995626,0.00005496233,0.00003946812,0.00002250511,0.0001566389,0.000004165401,0.00005889931,0.00006043439,6.315867e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000418018,"about_ca_system_score_gemma":0.00001839175,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001309796,"about_ca_topic_score_gemma":0.001264229,"domain_scores_codex":[0.9994221,0.00006681839,0.000153946,0.0001580642,0.0001048766,0.00009422047],"domain_scores_gemma":[0.9993779,0.00001738162,0.0002219998,0.00031446,0.00005234293,0.00001588054],"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":[0.0001348183,0.0003400565,0.1431576,0.00006349395,0.00008493321,0.000003448729,0.001619283,0.00261663,0.84993,0.00004073434,0.0001787711,0.001830243],"study_design_scores_gemma":[0.0009004872,0.000121153,0.9630121,0.0001280842,0.0000160376,0.000004061425,0.0001960533,0.004532231,0.03080073,0.0001521102,0.00002226297,0.0001146711],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998958,0.00001682044,0.0003344924,0.00004490231,0.00004211068,0.0001243977,0.00001110033,0.000004701962,0.0004634666],"genre_scores_gemma":[0.9997999,0.000002251052,0.00003739378,0.00003014662,0.00002943116,0.000007205303,0.00005425853,0.00000787133,0.00003154717],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8198546,"threshold_uncertainty_score":0.2241299,"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."}}