{"id":"W2886405327","doi":"10.1016/j.pediatrneurol.2018.08.007","title":"Twinkle-Associated Mitochondrial DNA Depletion","year":2018,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children’s Health Research Institute; Western University; Université de Montréal; Trillium Health Centre","funders":"","keywords":"Failure to thrive; Medicine; Encephalopathy; Pathological; Differential diagnosis; Pediatrics; Psychomotor learning; Pathology; Internal medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002140991,0.0005945307,0.0004931013,0.0009232598,0.000534674,0.0003810356,0.0005551822,0.0008137601,0.002327437],"category_scores_gemma":[0.001215141,0.0002356127,0.0002442887,0.0007255622,0.0008509097,0.0006368327,0.0009088597,0.0009399601,0.0003587965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003640528,"about_ca_system_score_gemma":0.0004826256,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008970043,"about_ca_topic_score_gemma":0.001071183,"domain_scores_codex":[0.9997107,0.00003309119,0.00003548382,0.00009879684,0.00006671223,0.00005506549],"domain_scores_gemma":[0.9990747,0.0002381,0.0003749033,0.00007309733,0.00008125486,0.0001578914],"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":[0.0009850452,0.0001053092,0.07347016,0.0002925145,0.0001652417,0.7815359,0.0005497831,0.001051122,0.108245,0.003460264,0.001837424,0.02830227],"study_design_scores_gemma":[0.00002759938,0.0001976995,0.0579173,0.00005277336,0.0001343825,0.8870606,0.0002745189,0.001359809,0.04705943,0.001891896,0.003992875,0.00003110397],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881049,0.001374007,0.004915616,0.0006942244,0.0001294528,0.00003493498,0.000445583,0.000148247,0.004152955],"genre_scores_gemma":[0.9966218,0.0005330197,0.001427217,0.000092272,0.00003491728,0.00000721993,0.0001434227,0.00002967602,0.001110348],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002327437,"threshold_uncertainty_score":0.007786095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009880429669173763,"score_gpt":0.2324269076372381,"score_spread":0.2225464779680643,"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."}}