{"id":"W2129986515","doi":"10.1038/ejhg.2010.208","title":"Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle","year":2010,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"European Commission","keywords":"Biology; Mitochondrial DNA; Mitochondrion; Oxidative phosphorylation; Mitochondrial disease; Mutation; Elongation factor; Translation (biology); Molecular biology; Cell biology; Genetics; Biochemistry; Gene; Ribosome; Messenger RNA; RNA","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":[0.0004160094,0.0001305726,0.0002109271,0.0002335251,0.00002691557,0.00001450761,0.0001815306,0.00009447752,0.00004917906],"category_scores_gemma":[0.0002090956,0.0001228257,0.0000572004,0.0001699533,0.00007626559,0.000008086779,0.00003299526,0.0003077703,0.00000276494],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002009023,"about_ca_system_score_gemma":0.00007395567,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008534823,"about_ca_topic_score_gemma":0.0009533333,"domain_scores_codex":[0.9984055,0.000407622,0.0006485886,0.0001841925,0.0001793763,0.0001747098],"domain_scores_gemma":[0.9991607,0.00002827679,0.0004401262,0.000165676,0.0001510085,0.000054207],"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":[0.0003003831,0.0001630608,0.01619571,0.000007055708,0.00000709182,0.00008043287,0.0006924805,0.0003816248,0.981667,0.000009706282,0.00007044929,0.0004250425],"study_design_scores_gemma":[0.006188071,0.003111227,0.5744989,0.00007917949,0.00001234813,0.00004455487,0.0001745626,0.0000816703,0.4153711,0.00004820506,0.0001778504,0.0002123008],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986027,0.00004251461,0.0005501847,0.00003186989,0.0003544702,0.0001482716,0.00001277944,0.000002126225,0.0002551132],"genre_scores_gemma":[0.9983172,0.00001381613,0.001333241,0.00006055968,0.0001336694,0.000001017296,0.00003028692,0.0000232551,0.00008691048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5662958,"threshold_uncertainty_score":0.5008686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01245650316085912,"score_gpt":0.2341476733800199,"score_spread":0.2216911702191608,"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."}}