{"id":"W2913533464","doi":"10.1038/s41467-019-08548-9","title":"Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Eye Institute; National Human Genome Research Institute; Ministerio de Economía y Competitividad; National Institutes of Health; National Heart, Lung, and Blood Institute; Broad Institute","keywords":"Exon; Gene isoform; Myopathy; Mutation; Biology; Gene; Skeletal muscle; Genetics; Molecular biology; Endocrinology","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":[0.0001242954,0.0009911163,0.0003265432,0.0005066811,0.0001539923,0.0001174732,0.0003235657,0.0004734283,0.002054213],"category_scores_gemma":[0.0002018178,0.000202551,0.0002632835,0.0002162292,0.0003670958,0.0001080644,0.0005827153,0.0004647173,0.000592141],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001774104,"about_ca_system_score_gemma":0.0001857719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006499084,"about_ca_topic_score_gemma":0.001416475,"domain_scores_codex":[0.9998488,0.00001580429,0.00001699011,0.00004898331,0.00005045894,0.00001893714],"domain_scores_gemma":[0.999769,0.00004752555,0.0000904904,0.00001408789,0.00001085222,0.00006810981],"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":[0.0001214686,0.00001965901,0.001611248,0.00005235583,0.00002154385,0.00465851,0.00004079402,0.0001368341,0.9889903,0.0003363732,0.0002185783,0.003792223],"study_design_scores_gemma":[0.0001754025,0.0009560669,0.1302479,0.00007027608,0.0002077778,0.1237752,0.0001483426,0.003503279,0.7298322,0.0008228688,0.01019969,0.00006091989],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909443,0.0008989397,0.005251313,0.0001213837,0.00002788584,0.00002624924,0.0008174178,0.000248743,0.001663913],"genre_scores_gemma":[0.992627,0.0005487452,0.00399256,0.0000652654,0.00001348137,0.0000208799,0.0006402997,0.00007400131,0.002017718],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002054213,"threshold_uncertainty_score":0.006872058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02750027532335527,"score_gpt":0.3284177102003302,"score_spread":0.3009174348769749,"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."}}