{"id":"W2051206940","doi":"10.1086/318196","title":"A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13","year":2001,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; Montreal General Hospital; University of Toronto","funders":"Medical Research Council","keywords":"Biology; Biochemistry; Pyruvate dehydrogenase complex; Molecular biology; Fumarase; Cytochrome c oxidase; Pyruvate carboxylase; Dehydrogenase; Citrate synthase; Mitochondrion; 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":[0.0003064177,0.003563615,0.001381066,0.002977393,0.001629247,0.0006875641,0.001146216,0.002834301,0.004524128],"category_scores_gemma":[0.001364931,0.0006640985,0.0009662759,0.001765858,0.001946837,0.0004329405,0.001582084,0.001624124,0.00053021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008962571,"about_ca_system_score_gemma":0.0008924251,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002157418,"about_ca_topic_score_gemma":0.002510311,"domain_scores_codex":[0.9992743,0.00009090394,0.00006671701,0.0002259999,0.0002319497,0.0001101582],"domain_scores_gemma":[0.9985716,0.000613862,0.000406505,0.00008026877,0.00005349486,0.0002742966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001784151,0.0002747196,0.008023837,0.000265714,0.0003156672,0.6128482,0.0008717919,0.00107694,0.3465697,0.009808577,0.001885667,0.01627492],"study_design_scores_gemma":[0.0008522948,0.0008276626,0.03973078,0.00008145458,0.0007267317,0.8501385,0.0002521434,0.003988054,0.09235185,0.003451592,0.007482698,0.0001162288],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9671527,0.00154012,0.01950693,0.001189396,0.0003198735,0.0002293803,0.0007021443,0.0007945696,0.008564824],"genre_scores_gemma":[0.985218,0.0006473922,0.008843235,0.0002167685,0.0002414602,0.0001336694,0.0004185936,0.0001217661,0.004159078],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004524128,"threshold_uncertainty_score":0.01513475,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0118694137812108,"score_gpt":0.2425592814329208,"score_spread":0.23068986765171,"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."}}