{"id":"W2164794510","doi":"10.1136/jmg.2003.017426","title":"Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome","year":2004,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research; Wellcome Trust; Howard Hughes Medical Institute","keywords":"Leigh disease; Cytochrome c oxidase; Biology; Hypotonia; Mitochondrial DNA; Mitochondrial Encephalomyopathies; Mutation; Genetics; Mitochondrion; Internal medicine; Endocrinology; Mitochondrial myopathy; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003245401,0.0007549964,0.0005250431,0.0003689136,0.0004969202,0.0003971817,0.0004379698,0.004660429,0.005764191],"category_scores_gemma":[0.003920218,0.0002082827,0.0003715705,0.0003597289,0.0007247128,0.0006209917,0.0003511782,0.001747693,0.002072771],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005996278,"about_ca_system_score_gemma":0.0002210643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001608981,"about_ca_topic_score_gemma":0.001597041,"domain_scores_codex":[0.9997148,0.00005092474,0.000032597,0.00003889454,0.00007926122,0.00008345444],"domain_scores_gemma":[0.9987469,0.0007435994,0.000112473,0.0000657791,0.0001468421,0.0001843774],"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":[0.0002853448,0.0000911887,0.0162416,0.000169804,0.00004454446,0.9217876,0.0003803463,0.0002137488,0.009592105,0.001999004,0.03335183,0.01584281],"study_design_scores_gemma":[0.0001714175,0.0001996257,0.02079237,0.0001094982,0.00004667811,0.9195628,0.0002036698,0.0008922448,0.002972934,0.00178773,0.05323481,0.00002635043],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6193963,0.01416344,0.005456562,0.2168149,0.009972363,0.000200973,0.0006365213,0.0005674721,0.1327914],"genre_scores_gemma":[0.9308415,0.006497416,0.001410647,0.03455596,0.008949555,0.00006040861,0.0002477743,0.00008714807,0.01734961],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005764191,"threshold_uncertainty_score":0.01928312,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04601343666276425,"score_gpt":0.2899468014230233,"score_spread":0.243933364760259,"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."}}