{"id":"W2311948129","doi":"10.1038/jhg.2016.28","title":"Deletion of exons 3−9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy","year":2016,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Medical Research Council; National Center of Neurology and Psychiatry","keywords":"Exon; Duchenne muscular dystrophy; Dystrophin; Exon skipping; Muscular dystrophy; Hot spot (computer programming); Genetics; Gene; Phenotype; Asymptomatic; Biology; Muscle biopsy; Mutation; Medicine; Pathology; Biopsy; Alternative splicing","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":[0.0003630672,0.00009760979,0.0001483187,0.00008593282,0.00009549888,0.00001067795,0.0002360197,0.00008626774,0.000005702161],"category_scores_gemma":[0.00008198969,0.00006326493,0.00008958234,0.00005183852,0.00008931598,0.00001044833,0.00001947586,0.00006613885,1.936933e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001180243,"about_ca_system_score_gemma":0.00007179252,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002623785,"about_ca_topic_score_gemma":0.000009516187,"domain_scores_codex":[0.9990155,0.0001643789,0.0004068358,0.0001246047,0.0001442043,0.000144546],"domain_scores_gemma":[0.9991015,0.00006420568,0.0004970162,0.0001639327,0.0001397271,0.00003357354],"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":[0.0002863839,0.0002350654,0.006901389,0.00001957271,0.00005282299,0.000001313221,0.0006819484,0.0008104655,0.984341,0.00006177925,0.0001049544,0.006503264],"study_design_scores_gemma":[0.008937165,0.00531321,0.4522936,0.0002833642,0.00007759581,0.0001012688,0.001238991,0.001746502,0.5134774,0.01525705,0.0008051171,0.0004686934],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9802651,0.0006165005,0.01873073,0.0001075577,0.00005608961,0.000190379,0.000004229826,0.000001536163,0.00002792287],"genre_scores_gemma":[0.995031,0.0001213487,0.004486108,0.0001050509,0.0002054816,0.00001175365,0.00002057082,0.00001215776,0.000006507703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4708636,"threshold_uncertainty_score":0.2579869,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03365086924392982,"score_gpt":0.3120181978863172,"score_spread":0.2783673286423873,"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."}}