{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001064648,0.00009481161,0.000080872,0.00006941398,0.00006683372,0.00001711123,0.00002506678,0.00009008172,0.0000300475],"category_scores_gemma":[0.00006225445,0.00008808236,0.00001379285,0.00006673519,0.00004140285,0.00001466928,0.00001521506,0.00005834702,0.00001068824],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001317941,"about_ca_system_score_gemma":0.00001751348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003378873,"about_ca_topic_score_gemma":0.0004022032,"domain_scores_codex":[0.9994226,0.00004752277,0.0001284815,0.0001725285,0.00006376562,0.0001650888],"domain_scores_gemma":[0.9997346,0.00001749964,0.00006737654,0.00009366276,0.0000357859,0.00005101387],"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":[0.0001140034,0.00007839027,0.0125932,0.00003314481,0.000009715881,0.000006243658,0.0007775569,0.0001173251,0.9849309,0.0003028033,0.00005516012,0.0009815118],"study_design_scores_gemma":[0.004999275,0.002103392,0.5657276,0.0000927542,0.0001596146,0.001257135,0.00185106,0.0002704454,0.4204974,0.0004119035,0.001784178,0.0008453098],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899278,0.0002036777,0.009311538,0.00003043602,0.0001028043,0.0001368361,0.000003553878,0.00001140823,0.0002719609],"genre_scores_gemma":[0.9982392,0.000008469392,0.001107399,0.0001576357,0.000154265,0.00003016052,0.0001471738,0.00001376779,0.0001419363],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5644336,"threshold_uncertainty_score":0.3591895,"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."}}