{"id":"W2130531565","doi":"10.1186/s13395-015-0056-4","title":"Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype","year":2015,"lang":"en","type":"article","venue":"Skeletal Muscle","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Concordia University; McGill University","funders":"Canadian Institutes of Health Research; China Scholarship Council; Natural Sciences and Engineering Research Council of Canada; National Center of Neurology and Psychiatry; Japan Agency for Medical Research and Development","keywords":"Muscular dystrophy; Myopathy; Congenital muscular dystrophy; Muscle biopsy; Biology; Phenotype; Fatty liver; Missense mutation; Frameshift mutation; Genetics; Mutation; Limb-girdle muscular dystrophy; Pathology; Medicine; Gene; Disease; Biopsy","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002091316,0.001712995,0.0004397855,0.0009077001,0.0003353191,0.0001769564,0.0003443583,0.0007723633,0.002069032],"category_scores_gemma":[0.0004734694,0.0002263504,0.0003539928,0.0004579009,0.0005584773,0.0002005906,0.0007109529,0.0005889781,0.0005296897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002340541,"about_ca_system_score_gemma":0.0002768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008935392,"about_ca_topic_score_gemma":0.001241174,"domain_scores_codex":[0.9997951,0.00002083039,0.0000320801,0.00006852688,0.00005156241,0.00003182993],"domain_scores_gemma":[0.9996642,0.00007238735,0.0001112273,0.00002186283,0.00003821249,0.00009213517],"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":[0.0005829061,0.0001329084,0.04124137,0.0004361263,0.0001494233,0.5710621,0.0005886343,0.0004317257,0.3647397,0.0009099657,0.001293049,0.01843207],"study_design_scores_gemma":[0.00005645625,0.0003341736,0.07637931,0.00005841671,0.000130586,0.8918553,0.0001016596,0.0006194813,0.02718081,0.0001764685,0.003081227,0.00002618144],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910799,0.001308151,0.003237147,0.0001704761,0.00003604941,0.0000530159,0.0003338117,0.0002156148,0.003565907],"genre_scores_gemma":[0.9958284,0.0006407303,0.002062732,0.0001134056,0.00003365875,0.00002295469,0.0002013396,0.0000390744,0.001057613],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002069032,"threshold_uncertainty_score":0.006921589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007878942419862695,"score_gpt":0.2167450019714363,"score_spread":0.2088660595515736,"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."}}