{"id":"W2109733885","doi":"10.1002/humu.22098","title":"A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia","year":2012,"lang":"en","type":"article","venue":"Human Mutation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; McGill University","funders":"Canadian Institutes of Health Research; Howard Hughes Medical Institute","keywords":"Biology; Lactic acidosis; Sideroblastic anemia; Missense mutation; Mutation; Mitochondrial DNA; Mitochondrial disease; Molecular biology; Mitochondrial myopathy; Myopathy; Mitochondrion; Genetics; Compound heterozygosity; Phenotype; Gene; Biochemistry","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":[0.0002290002,0.001205583,0.0005467904,0.0007558074,0.000424322,0.0002670015,0.0003383873,0.001137786,0.001633204],"category_scores_gemma":[0.0003977965,0.0002588066,0.0006153859,0.0003676011,0.0005751734,0.000194467,0.0004727972,0.0004654903,0.0006574901],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002212973,"about_ca_system_score_gemma":0.000180291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006068789,"about_ca_topic_score_gemma":0.0007317335,"domain_scores_codex":[0.9997676,0.00003400298,0.00003400269,0.00008245985,0.00005469451,0.00002729138],"domain_scores_gemma":[0.9997227,0.00006196039,0.00008171146,0.00001374401,0.00002332884,0.00009654038],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0009241854,0.0002415166,0.04984397,0.0002895542,0.0002973034,0.26557,0.001043111,0.0004542458,0.6705484,0.000557843,0.0007445092,0.009485312],"study_design_scores_gemma":[0.0002748201,0.001871816,0.1987636,0.00005687607,0.0002851845,0.6565128,0.0004690998,0.002994787,0.1326345,0.0003852397,0.005676093,0.00007525735],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976006,0.0002791646,0.001305686,0.0001194818,0.00003472554,0.00002187457,0.0001376698,0.00007279457,0.0004279843],"genre_scores_gemma":[0.9974822,0.0001386992,0.000986972,0.00007608733,0.0000612829,0.00001204336,0.0002065717,0.00002847792,0.001007789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001633204,"threshold_uncertainty_score":0.0054636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01816950312326036,"score_gpt":0.2605470986842924,"score_spread":0.2423775955610321,"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."}}