{"id":"W4401051557","doi":"10.1038/s41467-024-49950-2","title":"A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry","year":2024,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Medical Research Council; Fondazione Regionale per la Ricerca Biomedica; National Institute for Health and Care Research; Australian Cancer Research Foundation; Australian Government; Ministero della Salute; Regione Lombardia; Department of Health and Social Care; Government of Western Australia; Fondazione Cariplo; National Health and Medical Research Council; Cancer Research UK; Wellcome Trust","keywords":"Myopathy; Muscle biopsy; Trinucleotide repeat expansion; Biology; Dysphagia; Pathology; Genetics; Anatomy; Medicine; Biopsy; 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":[0.0001479782,0.0004269529,0.0002581235,0.001024107,0.0006561695,0.0002482339,0.0001521781,0.000461074,0.001478192],"category_scores_gemma":[0.0005307111,0.0001589252,0.0002745685,0.0005733125,0.0003736412,0.0001167547,0.000375255,0.0002194845,0.0001816965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002654046,"about_ca_system_score_gemma":0.0001027192,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003757566,"about_ca_topic_score_gemma":0.004673295,"domain_scores_codex":[0.9997876,0.00002782167,0.00002474921,0.00008675433,0.00003632854,0.0000366762],"domain_scores_gemma":[0.9998763,0.00003424112,0.00003220173,0.00001042805,0.00001618948,0.00003065279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001040921,0.0001471927,0.6486775,0.00008490691,0.000239284,0.05156787,0.002089557,0.0002067166,0.2743587,0.0002604906,0.0004696383,0.02085727],"study_design_scores_gemma":[0.00002628929,0.0002897383,0.9424063,0.00002685058,0.0001140693,0.04897458,0.000491715,0.0003122438,0.006293856,0.0001112991,0.0009362684,0.00001677199],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994891,0.00007974367,0.0001034382,0.00001663898,0.000002437207,0.000004386634,0.0000387865,0.000003689259,0.0002617119],"genre_scores_gemma":[0.9993054,0.00008358844,0.0002227438,0.0000431063,0.000004526844,0.000004200204,0.00006989566,0.000004205743,0.0002622899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003757566,"threshold_uncertainty_score":0.007471383,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05408740909072841,"score_gpt":0.3435998751269769,"score_spread":0.2895124660362485,"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."}}