{"id":"W2019599081","doi":"10.1016/j.nmd.2008.03.011","title":"Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy","year":2008,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Hospital; Children's Hospital of Western Ontario; Hospital for Sick Children; Foothills Medical Centre","funders":"","keywords":"Facioscapulohumeral muscular dystrophy; Duchenne muscular dystrophy; Phenotype; Muscular dystrophy; Dystrophin; Medicine; Exon; Clinical phenotype; Genetics; Biology; Gene; Internal medicine","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":[0.00006514943,0.0002242837,0.0002482637,0.00005999363,0.0001462301,0.000004573821,0.0001868607,0.0001521359,0.00003549877],"category_scores_gemma":[0.00007379024,0.0002246686,0.0001768414,0.0001168761,0.0004231035,0.000007216699,0.0001183332,0.0001180072,0.00000646671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002640031,"about_ca_system_score_gemma":0.00004066305,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005238664,"about_ca_topic_score_gemma":0.00002203623,"domain_scores_codex":[0.9987906,0.0001053264,0.0002284382,0.0004525784,0.000143193,0.0002798958],"domain_scores_gemma":[0.9993098,0.00001226879,0.00008804267,0.0004433582,0.00004851516,0.00009800249],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007173188,0.0004948282,0.02829804,0.0001296606,0.0002662481,0.00001088171,0.0002806175,0.0004803723,0.9642716,0.0006412431,0.00119476,0.003214403],"study_design_scores_gemma":[0.01255086,0.005980229,0.8660238,0.00003635693,0.0002578485,0.00007201677,0.0004897641,0.0006116169,0.05970382,0.003484019,0.0487625,0.002027147],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970033,0.001315475,0.0003772661,0.0001599164,0.0001230094,0.000219496,0.00001161408,0.00002104215,0.0007689517],"genre_scores_gemma":[0.9979173,0.001381047,0.0001843438,0.0002500052,0.00003923113,0.00001818373,0.00009347915,0.00003273581,0.00008367764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9045678,"threshold_uncertainty_score":0.9161718,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005493927305088256,"score_gpt":0.1937219879073994,"score_spread":0.1882280606023111,"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."}}