{"id":"W2131293378","doi":"10.1056/nejmoa041878","title":"Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency","year":2004,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":195,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Mitochondrial DNA; Oxidative phosphorylation; Biology; Mitochondrial disease; Mitochondrion; ATP–ADP translocase; Genetics; Gene; Phosphorylation; Human mitochondrial genetics; Mutation; Molecular biology; Cell biology; Biochemistry; Inner mitochondrial membrane","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001822473,0.0001046797,0.0001834506,0.0000730834,0.00005238124,0.000007512631,0.00006610242,0.00009553858,0.00008964929],"category_scores_gemma":[0.0004573944,0.00007421402,0.0000354712,0.00007197353,0.00007786065,0.000008210074,0.00001388414,0.0001326727,0.000002791954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001620225,"about_ca_system_score_gemma":0.0001147202,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002468583,"about_ca_topic_score_gemma":0.00003282015,"domain_scores_codex":[0.9992132,0.00006471008,0.0003101331,0.0001314396,0.0001740257,0.0001065009],"domain_scores_gemma":[0.9993587,0.00002886759,0.000232725,0.00009034767,0.0001537575,0.0001355727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001189597,0.00003112746,0.0007283538,0.000005191136,0.0000221737,0.00001497861,0.0005853765,0.00007999962,0.9848091,0.0002843778,0.0009262543,0.01132345],"study_design_scores_gemma":[0.1620484,0.01874601,0.01572148,0.0002309746,0.0002123053,0.002306812,0.0006002299,0.00003062614,0.6802886,0.006889392,0.1124244,0.000500762],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9646217,0.000800158,0.03065298,0.001749467,0.00170811,0.000110242,0.000004099402,0.000004015556,0.0003491811],"genre_scores_gemma":[0.9945462,0.0003649755,0.001529739,0.0002727267,0.003059585,7.739972e-7,0.00003132892,0.000008635046,0.0001860555],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3045205,"threshold_uncertainty_score":0.302636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01228492847624388,"score_gpt":0.2497231077359105,"score_spread":0.2374381792596666,"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."}}