{"id":"W2046749013","doi":"10.1002/ana.10284","title":"Mitochondrial DNA depletion and <i>dGK</i> gene mutations","year":2002,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":162,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Università degli Studi di Padova; National Institutes of Health; Eusko Jaurlaritza; Muscular Dystrophy Association","keywords":"Missense mutation; Mitochondrial DNA; Mutation; Biology; Gene duplication; Gene; Compound heterozygosity; Genetics; Phenotype; Molecular biology; Cancer research","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":[0.00005198264,0.0001008091,0.0001380495,0.00005636012,0.00005290021,0.000005498956,0.00007855229,0.0001827908,0.0001315794],"category_scores_gemma":[0.000141022,0.0001036296,0.00006247062,0.000061216,0.0001346612,0.000003398346,0.00004810259,0.00007906169,0.00002503263],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":3.934366e-7,"about_ca_system_score_gemma":0.000007551183,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007622838,"about_ca_topic_score_gemma":0.00001692339,"domain_scores_codex":[0.9991587,0.0001247364,0.0001950906,0.0002875749,0.00005850189,0.000175362],"domain_scores_gemma":[0.9995297,0.00002790415,0.00008334454,0.0002118089,0.00008115815,0.00006611463],"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":[0.0001694401,0.00005970576,0.0009192735,0.000005442556,0.00002012471,0.000008619218,0.00003666011,0.00002476924,0.972514,0.0002383934,0.02480417,0.001199365],"study_design_scores_gemma":[0.001457221,0.003114663,0.004956059,0.000002691724,0.00003286531,0.0004872743,0.00001017371,0.0002205549,0.4982487,0.00075417,0.4904303,0.0002852798],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992109,0.0006866709,0.001041027,0.003650151,0.0007326885,0.0001313434,0.00002581588,0.00001331709,0.001609975],"genre_scores_gemma":[0.9900563,0.001103943,0.0005143129,0.007023273,0.0006010606,0.00001922234,0.00008404243,0.00001868419,0.0005791753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4742653,"threshold_uncertainty_score":0.4225893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03894564277952805,"score_gpt":0.268125557171453,"score_spread":0.229179914391925,"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."}}