{"id":"W2883459175","doi":"10.1002/mdc3.12667","title":"ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease","year":2018,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre; Toronto Western Hospital; University of Toronto","funders":"","keywords":"Coenzyme Q10; Dystonia; Ataxia; Myoclonus; Medicine; Movement disorders; Disease; Pediatrics; Mitochondrial disease; Bioinformatics; Internal medicine; Genetics; Gene; Psychiatry; Biology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007642575,0.0002907493,0.0002697695,0.00003727348,0.0003512114,0.00006408785,0.0003205687,0.000169526,0.0001965805],"category_scores_gemma":[0.002574708,0.0002702019,0.0002577852,0.0002056225,0.0003586456,0.0000196661,0.0003927287,0.0002100584,0.0002282511],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002071248,"about_ca_system_score_gemma":0.0001559138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001778299,"about_ca_topic_score_gemma":0.0003030353,"domain_scores_codex":[0.9973297,0.0002601907,0.0006758749,0.0008322474,0.0003423716,0.0005596125],"domain_scores_gemma":[0.998251,0.0002179513,0.0002790279,0.0007408699,0.0002053836,0.0003057282],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003250336,0.004735887,0.02752034,0.00007784185,0.0007946944,0.00007443388,0.0001459992,0.0001927686,0.006447356,0.0008538472,0.911561,0.04434546],"study_design_scores_gemma":[0.004743989,0.004808843,0.07548258,0.00003894195,0.0006526436,0.000004961842,0.0005416587,0.0009588614,0.0007459624,0.002270537,0.9087915,0.0009594937],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.915462,0.0130203,0.02347239,0.02027384,0.003424647,0.00217082,0.0000904706,0.0001779173,0.02190769],"genre_scores_gemma":[0.9772961,0.004138463,0.002733432,0.01233337,0.0008376359,0.00007823107,0.000110137,0.00006439431,0.002408268],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06183414,"threshold_uncertainty_score":0.999975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01180907841930133,"score_gpt":0.3244106861175212,"score_spread":0.3126016076982199,"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."}}