{"id":"W4207023222","doi":"10.1007/s00246-021-02797-6","title":"Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy","year":2022,"lang":"en","type":"article","venue":"Pediatric Cardiology","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":false,"ca_institutions":"Stollery Children's Hospital; University of Alberta","funders":"","keywords":"Exon; Dystrophin; Duchenne muscular dystrophy; Medicine; Genetics; Mutation; Muscular dystrophy; Population; Age of onset; Genetic heterogeneity; Internal medicine; Disease; Biology; Gene; Phenotype","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":[0.0001878923,0.00008920316,0.0002488364,0.00009658308,0.0001398706,6.614965e-7,0.0001138135,0.00006304218,0.000007662992],"category_scores_gemma":[0.00009115691,0.00009290741,0.0000986525,0.0001292694,0.0001511776,0.000002980704,0.0007267015,0.00008947443,1.588562e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000861909,"about_ca_system_score_gemma":0.0001261603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008376768,"about_ca_topic_score_gemma":0.000001934209,"domain_scores_codex":[0.99909,0.000226963,0.0002017834,0.0002679567,0.00008770443,0.0001256425],"domain_scores_gemma":[0.9995485,0.00002166023,0.0001228653,0.0001954299,0.00004258356,0.00006893693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005767209,0.0000842131,0.9760731,0.00004135579,0.0000739356,0.0000254252,0.0000677535,0.001555248,0.02116156,0.00004834414,0.0002075223,0.00008479357],"study_design_scores_gemma":[0.001229852,0.0004619161,0.9968728,0.000001281867,0.000111196,0.00001019516,0.0001246244,0.00003979202,0.0003887174,0.000456893,0.0001759049,0.0001268658],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953198,0.003950065,0.0001382254,0.00004531824,0.00008391034,0.0002460438,0.0001321068,0.000003982186,0.00008050742],"genre_scores_gemma":[0.9992022,0.0003100712,0.00007102491,0.00002294382,0.00007386531,0.00005373052,0.0002536332,0.00000631507,0.00000621458],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02079963,"threshold_uncertainty_score":0.3788654,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009304249507730795,"score_gpt":0.2338189103523248,"score_spread":0.224514660844594,"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."}}