{"id":"W2502456218","doi":"10.1007/8904_2016_559","title":"Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)","year":2016,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; University of British Columbia; Child and Family Research Institute","funders":"","keywords":"Exome sequencing; Hypotonia; Lactic acidosis; Medicine; Mitochondrial disease; Leigh disease; Internal medicine; Endocrinology; Failure to thrive; Hyperammonemia; Genetics; Mitochondrial DNA; Biology; Mutation; Gene","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":[0.0001606103,0.0002294914,0.0003061174,0.0000867089,0.00006000156,0.00001177475,0.00008875295,0.0002586801,0.00002716415],"category_scores_gemma":[0.0004138563,0.0001504492,0.00007086456,0.0001369222,0.0001919536,0.000005287984,0.0001133811,0.00009089401,0.000004740229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001621924,"about_ca_system_score_gemma":0.0001616146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005781779,"about_ca_topic_score_gemma":0.00009513165,"domain_scores_codex":[0.9984639,0.00005506371,0.0003516606,0.0006602143,0.0001779846,0.0002912007],"domain_scores_gemma":[0.9989336,0.00006258217,0.0001952922,0.0004664564,0.0001416814,0.000200359],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003322491,0.00008404013,0.008042256,0.00002629109,0.00003823649,0.002050923,0.00004643519,0.00001378525,0.9858018,0.00004001069,0.003147254,0.0003767349],"study_design_scores_gemma":[0.00149308,0.001893437,0.03559988,0.000112558,0.00009536865,0.04705551,0.00005316397,0.000005249743,0.9061369,0.0001021067,0.006873059,0.0005796659],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953529,0.0003767233,0.00283654,0.0001636301,0.000458121,0.0002959225,0.00005024354,0.00002107583,0.0004448918],"genre_scores_gemma":[0.9959906,0.00003592624,0.002228113,0.0001444182,0.0001147723,0.00003468743,0.00005349726,0.00002708667,0.001370836],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07966486,"threshold_uncertainty_score":0.6135139,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004732914772155554,"score_gpt":0.2037874533553039,"score_spread":0.1990545385831483,"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."}}