{"id":"W2068361256","doi":"10.1016/j.ajhg.2014.12.023","title":"COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":109,"is_retracted":false,"has_abstract":false,"ca_institutions":"Health Sciences Centre","funders":"European Research Council; Medical Research Council; Masato Kawano Memorial Public Interest Foundation for Promotion of Pediatrics; Ministero della Salute; Fondazione Cariplo; Bundesministerium für Bildung und Forschung; Fondazione Telethon; Ministry of Education, Culture, Sports, Science and Technology; Instituto de Salud Carlos III; Austrian Science Fund; Fondazione Pierfranco e Luisa Mariani; Ministry of Health, Labour and Welfare; Deutsche Forschungsgemeinschaft","keywords":"Hypotonia; Biology; Mitochondrial respiratory chain; Respiratory chain; Mitochondrial Encephalomyopathies; Genetics; Exome sequencing; Mitochondrial disease; Cerebellar hypoplasia (non-human); Coenzyme Q – cytochrome c reductase; Mutation; Mitochondrial DNA; Internal medicine; Mitochondrion; Bioinformatics; Medicine; Gene; Endocrinology; Mitochondrial myopathy","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":[0.0001928499,0.0001239643,0.0002482362,0.00004556397,0.0001056197,0.00001329285,0.0002566631,0.00002405304,0.000002538203],"category_scores_gemma":[0.0001043959,0.00008232014,0.00009424513,0.0001857343,0.0005460428,0.00000232543,0.00006656225,0.0001123875,8.279557e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000225013,"about_ca_system_score_gemma":0.0001435206,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004349374,"about_ca_topic_score_gemma":0.0003407829,"domain_scores_codex":[0.9990401,0.000126825,0.0002789046,0.000107451,0.0002499433,0.0001968089],"domain_scores_gemma":[0.9988385,0.00003591344,0.0006091226,0.0002186368,0.0002090815,0.00008874528],"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":[0.004591184,0.002501221,0.1143556,0.00005956526,0.004101402,0.00008787241,0.01158927,0.03978221,0.66287,0.0003356522,0.1530338,0.006692098],"study_design_scores_gemma":[0.03394488,0.2319016,0.3844369,0.0005832042,0.005062593,0.001246392,0.04552134,0.001068112,0.2666439,0.004952662,0.02064448,0.003993978],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978167,0.000990134,0.000562738,0.0002566291,0.0001128318,0.0001023667,0.000009887574,0.00000266257,0.0001460876],"genre_scores_gemma":[0.9991962,0.0001924861,0.0002676381,0.00006641483,0.0001940949,0.000002083028,0.000007213923,0.00001760816,0.00005623177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3962262,"threshold_uncertainty_score":0.3356918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01248263553530892,"score_gpt":0.2660443122470542,"score_spread":0.2535616767117453,"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."}}