{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002891901,0.002309263,0.001152029,0.002392421,0.001025011,0.0005284749,0.000688509,0.001425839,0.01052779],"category_scores_gemma":[0.001220805,0.0004349478,0.0004095724,0.0008796398,0.001350005,0.0004492403,0.001403193,0.0007037658,0.001582477],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000425815,"about_ca_system_score_gemma":0.0005356983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004065891,"about_ca_topic_score_gemma":0.003882586,"domain_scores_codex":[0.9994011,0.00007527718,0.00005556486,0.0001532877,0.0002307523,0.0000840534],"domain_scores_gemma":[0.9992669,0.0002270666,0.0001634414,0.00004428911,0.00008554896,0.0002127571],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.001821997,0.0002879452,0.03826935,0.0005241815,0.0002561923,0.538287,0.001062899,0.001502482,0.3862711,0.002056639,0.002658412,0.0270018],"study_design_scores_gemma":[0.0001896969,0.0005900085,0.1613386,0.0001075969,0.0002751051,0.7947118,0.0006525052,0.002295988,0.03270829,0.0007679428,0.006278149,0.00008422503],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.970549,0.001852406,0.002724955,0.0006496235,0.0001126067,0.00009031795,0.001700997,0.0004408848,0.02187916],"genre_scores_gemma":[0.9913164,0.000408933,0.001423839,0.0001478336,0.00006299387,0.00003389713,0.0003930044,0.00007566217,0.006137395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01052779,"threshold_uncertainty_score":0.03521895,"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."}}