{"id":"W2321706396","doi":"10.1097/dbp.0000000000000262","title":"A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability","year":2016,"lang":"en","type":"article","venue":"Journal of Developmental & Behavioral Pediatrics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Muscular dystrophy; Intellectual disability; Congenital muscular dystrophy; Muscle biopsy; Dystrophin; Duchenne muscular dystrophy; Wechsler Adult Intelligence Scale; Medicine; Differential diagnosis; Muscle weakness; Neuropathology; Psychology; Pathology; Pediatrics; Internal medicine; Psychiatry; Biopsy; Cognition; Disease","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":[0.0002655897,0.0001971007,0.000242743,0.0001008612,0.00006422152,0.00001510822,0.0001763274,0.0001903034,0.00004474625],"category_scores_gemma":[0.0003123773,0.0001356316,0.0001097437,0.0002451394,0.000176163,0.00002949909,0.00006026683,0.0001660286,0.000004261234],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001742696,"about_ca_system_score_gemma":0.0003023658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002185119,"about_ca_topic_score_gemma":0.0002669067,"domain_scores_codex":[0.9986628,0.00007270576,0.0004859025,0.0002401348,0.0002701264,0.000268389],"domain_scores_gemma":[0.9992469,0.00005529799,0.0002994134,0.0001056292,0.0001851975,0.000107539],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001024796,0.001591231,0.5207345,0.00001482469,0.00007159817,0.00005671315,0.0004655362,0.00003078829,0.4707296,0.000004267658,0.000470393,0.004805692],"study_design_scores_gemma":[0.005655618,0.002537348,0.9558466,0.00006733539,0.0001620056,0.0001624182,0.0008205118,0.000002278746,0.03366524,0.00005907275,0.0004406105,0.0005809328],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987852,0.0001208482,0.0006941173,0.00006660436,0.0001419316,0.0001318216,0.0000297791,0.000005730538,0.00002398133],"genre_scores_gemma":[0.9985186,0.00009245124,0.001116275,0.00004806881,0.0001077296,0.000007665875,0.00004530067,0.00002025256,0.00004366178],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4370643,"threshold_uncertainty_score":0.5530895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01843447847279552,"score_gpt":0.2623721322529221,"score_spread":0.2439376537801266,"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."}}