{"id":"W2040963109","doi":"10.1002/(sici)1098-1004(200003)15:3<209::aid-humu1>3.0.co;2-k","title":"Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency","year":2000,"lang":"en","type":"review","venue":"Human Mutation","topic":"Biochemical Acid Research Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":204,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health","keywords":"Missense mutation; Nonsense mutation; Biology; Genetics; Exon; Pyruvate dehydrogenase complex; Nonsense; Gene; Mutation; Frameshift mutation; Biochemistry; Enzyme","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":[0.000147916,0.0007898163,0.0003849809,0.0008299075,0.0008787672,0.0003555067,0.0002165366,0.0006944289,0.001471113],"category_scores_gemma":[0.0007799144,0.0003301719,0.0002767172,0.0007127965,0.0004293259,0.0002820964,0.0003224955,0.0003980935,0.0003224737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000234109,"about_ca_system_score_gemma":0.0001494238,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001097271,"about_ca_topic_score_gemma":0.0009444319,"domain_scores_codex":[0.9997638,0.00002594801,0.00003317573,0.00008587816,0.00005160457,0.0000396525],"domain_scores_gemma":[0.9997781,0.00005034122,0.0000770642,0.00001187881,0.00001505138,0.00006757634],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008868879,0.0002421574,0.8183692,0.00009470802,0.0001565191,0.1153071,0.001437132,0.0003348649,0.03655633,0.0002744642,0.001556592,0.02478411],"study_design_scores_gemma":[0.00008802558,0.0004641428,0.7112755,0.00003011933,0.0001163816,0.282249,0.0003286809,0.0004448563,0.002981399,0.0001686921,0.001823259,0.00002988942],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9986936,0.0003299879,0.0002394998,0.00007327056,0.000008999854,0.00001084228,0.00009209393,0.00001455872,0.0005370915],"genre_scores_gemma":[0.9990849,0.0001869914,0.0002071133,0.00006360497,0.0000189341,0.000005735933,0.0001380522,0.000005243363,0.0002894694],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001471113,"threshold_uncertainty_score":0.004921317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0445960505722602,"score_gpt":0.3273311383117067,"score_spread":0.2827350877394466,"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."}}