{"id":"W2785995348","doi":"10.1038/gim.2017.251","title":"Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"Genome British Columbia; University of Victoria","funders":"European Commission; Medical Research Council; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Wellcome Trust","keywords":"Spinal muscular atrophy; Quinolinic acid; Mitochondrion; Mitochondrial disease; Mitochondrial DNA; Biology; Atrophy; Mutation; Medicine; Pathology; Genetics; Disease; Gene; Amino acid","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":[0.0001808116,0.0003097018,0.000335489,0.0001457254,0.0001576511,0.0000204944,0.0002027535,0.0002886671,0.0001596332],"category_scores_gemma":[0.0003886611,0.0002568289,0.00006578331,0.0002688759,0.0007686315,0.000005011076,0.0001049746,0.0002015747,0.00001023498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003096058,"about_ca_system_score_gemma":0.0001418172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003703018,"about_ca_topic_score_gemma":0.0002493458,"domain_scores_codex":[0.9977885,0.0001884489,0.0003985937,0.0007856321,0.0003859727,0.0004528605],"domain_scores_gemma":[0.9987738,0.00001946293,0.0001453826,0.0005397646,0.000212242,0.0003093437],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003502258,0.0001431495,0.01660681,0.00004055849,0.00009568688,0.000107496,0.0004991915,0.00003294119,0.96867,0.00009315714,0.008543094,0.001665703],"study_design_scores_gemma":[0.06968474,0.05254356,0.2864597,0.00150076,0.002274317,0.0005502689,0.001121345,0.002801189,0.1121164,0.003157038,0.4624294,0.005361348],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988291,0.002112977,0.005424718,0.0005626768,0.002605252,0.0004786869,0.00003822289,0.00002248289,0.0004639983],"genre_scores_gemma":[0.9910409,0.0005244488,0.001773945,0.001788376,0.003976115,0.00005111952,0.0002225998,0.00005499688,0.0005675135],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8565536,"threshold_uncertainty_score":0.9999884,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01202671439932245,"score_gpt":0.2565219851222671,"score_spread":0.2444952707229447,"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."}}