{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006768315,0.0001310205,0.0001250107,0.00001870696,0.00008257844,0.000010664,0.0001297832,0.00009678369,0.00001038191],"category_scores_gemma":[0.00005175201,0.00009470442,0.00005904026,0.00008684506,0.000351719,0.00001035194,0.00006673275,0.00009191699,0.00000301343],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004473981,"about_ca_system_score_gemma":0.00007790836,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001695861,"about_ca_topic_score_gemma":0.00008983543,"domain_scores_codex":[0.999294,0.00007266161,0.0001287727,0.0002322118,0.000109324,0.0001629801],"domain_scores_gemma":[0.9995123,0.00001362477,0.00007995033,0.0002469849,0.00007371599,0.0000734913],"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":[0.0003877092,0.0002985869,0.01859129,0.00008868759,0.0003522065,0.00000889266,0.001170073,0.0002723438,0.9673908,0.00008789597,0.002504185,0.008847323],"study_design_scores_gemma":[0.006650622,0.002582358,0.8321625,0.00005994376,0.0003385109,0.00005036323,0.002351318,0.0005079175,0.1374632,0.0004563472,0.01629507,0.001081871],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980087,0.001084677,0.000238569,0.00005437448,0.00005508961,0.0001765917,0.00006949774,0.000007922424,0.0003045494],"genre_scores_gemma":[0.9994701,0.00002871329,0.0001243487,0.0001066891,0.00003306794,0.00001465437,0.0001504602,0.00001477317,0.0000571855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8299276,"threshold_uncertainty_score":0.3861934,"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."}}