{"id":"W2023971703","doi":"10.1203/01.pdr.0000048100.91730.6a","title":"Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency","year":2003,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":75,"is_retracted":false,"has_abstract":false,"ca_institutions":"Columbia College","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke","keywords":"Cytochrome c oxidase; Phenotype; Mitochondrial DNA; Gene; Leigh disease; Mutation; Genetics; Biology; Genetic heterogeneity; Mitochondrion","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":[0.0005752084,0.00008307575,0.00008140838,0.0002427032,0.00009816946,0.00002096055,0.00009831322,0.0001184224,0.0001010855],"category_scores_gemma":[0.0004603927,0.00007179598,0.00002189645,0.00064146,0.00004211592,0.000005428022,0.00003381148,0.000199919,0.00005017209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001280595,"about_ca_system_score_gemma":0.0001047907,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002163134,"about_ca_topic_score_gemma":0.00001979605,"domain_scores_codex":[0.9985805,0.0003223958,0.0001558258,0.000318124,0.0002832045,0.0003399678],"domain_scores_gemma":[0.9994187,0.00003511455,0.00003368042,0.0002054385,0.0002301383,0.00007692623],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007051625,0.0003632081,0.9735039,0.0000320525,0.000008739644,0.00003320816,0.0001119397,0.0002734919,0.0215671,0.0002204587,0.001756849,0.001423844],"study_design_scores_gemma":[0.00947194,0.005461236,0.9654975,0.00001321144,0.0000253301,0.00003582792,0.0002342256,0.0001832274,0.008892842,0.0002288012,0.009319626,0.000636248],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920254,0.0001547087,0.005315472,0.00001799578,0.00006601879,0.0002967847,0.000004252989,0.000006982832,0.002112366],"genre_scores_gemma":[0.9981992,0.00004485911,0.001108345,0.00002715522,0.0001042497,0.0000288297,0.00008488663,0.00001378789,0.0003886973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01267426,"threshold_uncertainty_score":0.2927755,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02372030440762708,"score_gpt":0.3000244472728956,"score_spread":0.2763041428652685,"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."}}