{"id":"W2171628789","doi":"10.1093/hmg/ddg284","title":"Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency","year":2003,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":251,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"","keywords":"Biology; Missense mutation; Compound heterozygosity; Genetics; Mutation; Cytochrome c oxidase; Phenotype; Heme; Mitochondrial disease; Heme A; Molecular biology; Mitochondrion; Gene; Biochemistry; Enzyme; Mitochondrial DNA","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":[0.000428213,0.0002291475,0.0003176214,0.0001978406,0.00007177716,0.00003336241,0.0001261147,0.0003895258,0.00000901856],"category_scores_gemma":[0.001425763,0.0002337528,0.00009774481,0.0003003331,0.0001589501,0.00000435735,0.00003713403,0.0002018318,0.000002274945],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003055939,"about_ca_system_score_gemma":0.0001271636,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000062313,"about_ca_topic_score_gemma":0.005538948,"domain_scores_codex":[0.9978218,0.0004886552,0.0005758837,0.0006107701,0.0001201585,0.0003827309],"domain_scores_gemma":[0.9992071,0.0001614115,0.000141389,0.0003056374,0.0001034799,0.00008093775],"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":[0.001213491,0.0007676879,0.418517,0.00002620845,0.00007744526,0.00008658059,0.0004017865,0.001107619,0.5771283,0.0002406843,0.0001357706,0.000297451],"study_design_scores_gemma":[0.03519336,0.007094714,0.8654519,0.0002661476,0.0002689851,0.00009319155,0.0004444337,0.002664862,0.08136991,0.002358329,0.0027124,0.002081796],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942871,0.0005624263,0.003952039,0.00002480963,0.0001416943,0.0008082765,0.00005393287,0.00001049111,0.0001591779],"genre_scores_gemma":[0.9961764,0.0000662228,0.003171601,0.000176465,0.00003320763,0.0001102358,0.000183235,0.00003872423,0.00004397451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4957584,"threshold_uncertainty_score":0.9532162,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02295683888846167,"score_gpt":0.2891891404935385,"score_spread":0.2662323016050768,"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."}}