{"id":"W2068354638","doi":"10.1002/humu.9519","title":"Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":169,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Center for Research Resources; National Institutes of Health","keywords":"Biology; Missense mutation; Nonsense mutation; Hypotonia; Mutation; Genetics; Mitochondrial DNA; 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":[0.0001016986,0.00009308685,0.0001491505,0.0001115277,0.00006488861,0.000006020278,0.0000516324,0.0001521951,0.00002057301],"category_scores_gemma":[0.0002296576,0.0001002416,0.00005265553,0.0001062759,0.0001064037,0.000004715936,0.00002801503,0.00007769096,0.000005844254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005913381,"about_ca_system_score_gemma":0.00003434044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003864052,"about_ca_topic_score_gemma":0.0002552281,"domain_scores_codex":[0.9990724,0.0001487845,0.0003097953,0.0002747736,0.00008691019,0.0001073191],"domain_scores_gemma":[0.9996024,0.00001835898,0.00007673176,0.0001544155,0.00008350216,0.00006464393],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001683046,0.0000828498,0.004274265,0.000009931865,0.0000107042,0.00005781065,0.0002177862,0.0001213564,0.9922522,0.0005529795,0.001196233,0.001055565],"study_design_scores_gemma":[0.003939592,0.00155236,0.5000289,0.00003495456,0.00004285792,0.0003833798,0.0001406138,0.00003839332,0.4886898,0.001091925,0.003688016,0.0003691376],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897372,0.000107064,0.009152942,0.0001442593,0.0002711133,0.0002584885,0.00000900275,0.000008125218,0.0003118473],"genre_scores_gemma":[0.9944781,0.00001624518,0.004531299,0.0002959114,0.0002024753,0.00002753205,0.0002898097,0.00001231595,0.0001463282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5035624,"threshold_uncertainty_score":0.4087732,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02086209769469276,"score_gpt":0.3040593057847157,"score_spread":0.283197208090023,"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."}}