{"id":"W4229030223","doi":"10.1038/s41467-022-30015-1","title":"Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Health Sciences; Health Sciences Centre","funders":"NIH Clinical Center; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; Medical Research Council; Sanofi Genzyme; University College London; Target ALS; Great Ormond Street Hospital for Children; Kurt+Peter Foundation; National Eye Institute; National Center of Neurology and Psychiatry; Fondation Maladies Rares; National Human Genome Research Institute; Ultragenyx Pharmaceutical; Alzheimer's Association; Limb Girdle Muscular Dystrophy 2I; National Institute on Aging; University of Tokushima; National Institute for Health and Care Research; Massachusetts General Hospital; National Institutes of Health; Rosetrees Trust; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Sanofi; Broad Institute; Limb Girdle Muscular Dystrophy 2i Research Fund; Japan Agency for Medical Research and Development; ALS Association; Ellison Medical Foundation; U.S. Department of Health and Human Services; Howard Hughes Medical Institute","keywords":"Oculopharyngeal muscular dystrophy; Frameshift mutation; Muscular dystrophy; Genetics; Medicine; Biology; Mutation; Gene","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":[0.0002015139,0.0009391297,0.0002357505,0.0006268077,0.0003866234,0.0001855597,0.0002096077,0.0004050749,0.001181623],"category_scores_gemma":[0.000317626,0.0001938465,0.0002693083,0.0002324354,0.0004863639,0.00008103986,0.0003383994,0.0003494089,0.00019377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002637742,"about_ca_system_score_gemma":0.0001533435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001636364,"about_ca_topic_score_gemma":0.003352706,"domain_scores_codex":[0.9998192,0.00003312648,0.00001718094,0.00005373729,0.00004365878,0.00003312079],"domain_scores_gemma":[0.9998267,0.00005119819,0.00004420709,0.00001003445,0.00001181022,0.00005601997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001373375,0.0004063366,0.09899727,0.0001384372,0.0002722362,0.09632267,0.001012279,0.0007797924,0.7794858,0.0006486663,0.001012051,0.01955109],"study_design_scores_gemma":[0.0003939202,0.001724763,0.5457696,0.0001034111,0.0004697785,0.3039604,0.0008236359,0.002694943,0.136401,0.000611208,0.006978961,0.00006855538],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986843,0.0001419211,0.0004772498,0.0000248404,0.000007601172,0.00001151907,0.00006928854,0.00001698125,0.000566198],"genre_scores_gemma":[0.9987676,0.0001225024,0.0005235603,0.00002702221,0.00001316895,0.000006762418,0.0001006502,0.00001004508,0.0004285745],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001636364,"threshold_uncertainty_score":0.00395298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02440726463094533,"score_gpt":0.3319095170543168,"score_spread":0.3075022524233715,"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."}}