{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007428953,0.0006045256,0.0003224571,0.0003542264,0.0002246868,0.0001484599,0.0002569246,0.0008772463,0.003970059],"category_scores_gemma":[0.000240951,0.0001333869,0.0002931587,0.0001852395,0.000399913,0.0001608692,0.0002282391,0.0004532255,0.001018564],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001046342,"about_ca_system_score_gemma":0.0001590179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004837345,"about_ca_topic_score_gemma":0.0006304747,"domain_scores_codex":[0.9998978,0.0000128309,0.00001266853,0.00003227833,0.00002278212,0.00002163924],"domain_scores_gemma":[0.9998484,0.00006867185,0.00003479204,0.00001021575,0.000008454174,0.00002944944],"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":[0.0005002295,0.00007145103,0.009224024,0.00006586654,0.00002265513,0.06668404,0.0001263054,0.000235611,0.9123185,0.0003139717,0.0002711754,0.01016614],"study_design_scores_gemma":[0.00009964002,0.000766972,0.1643355,0.0000613605,0.000127918,0.3229647,0.000230142,0.001962475,0.500618,0.001051701,0.007733181,0.0000483392],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927289,0.0004608745,0.003536704,0.0002189124,0.00003063282,0.00002880806,0.0005054409,0.0001124832,0.002377281],"genre_scores_gemma":[0.9954196,0.0002078831,0.002167454,0.00009312281,0.00001378721,0.00001554251,0.0005800729,0.00003281759,0.001469774],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003970059,"threshold_uncertainty_score":0.01328117,"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."}}