{"id":"W2166483810","doi":"10.1038/ng1765","title":"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion","year":2006,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":418,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Fondazione Telethon; Fondazione Pierfranco e Luisa Mariani; European Commission","keywords":"Biology; Mitochondrial DNA; Locus (genetics); Genetics; Gene; Mitochondrion; Inner mitochondrial membrane; Molecular biology","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":[0.000110998,0.0003148474,0.0002847746,0.000160603,0.0001005879,0.00006219027,0.0002042899,0.001106311,0.00008252625],"category_scores_gemma":[0.0001244483,0.000309665,0.00007989331,0.000238814,0.0001228501,0.0000116485,0.00009155028,0.0004506711,0.00001232704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002093313,"about_ca_system_score_gemma":0.00009560779,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001128658,"about_ca_topic_score_gemma":0.001332251,"domain_scores_codex":[0.9980004,0.0002062308,0.0004329461,0.0007291871,0.000239604,0.0003916323],"domain_scores_gemma":[0.9991174,0.00001574992,0.0001339006,0.0004762928,0.0001405761,0.0001161132],"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":[0.0004561233,0.0001182385,0.003583607,0.00002735857,0.00001406048,0.00001967149,0.00008910697,0.00009161005,0.9921639,0.00005211288,0.002940418,0.0004438178],"study_design_scores_gemma":[0.002972019,0.0006835427,0.004675895,0.00002840515,0.00003856749,0.00008455104,0.00003800767,0.0005366782,0.9373297,0.0005319224,0.05256122,0.0005194882],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952123,0.001026983,0.0007592952,0.0001872017,0.001466274,0.0007460885,0.00007541698,0.00003266147,0.0004938493],"genre_scores_gemma":[0.9837566,0.0001492118,0.01091281,0.0006679134,0.002483946,0.00008657426,0.0008589791,0.00005753879,0.001026443],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05483418,"threshold_uncertainty_score":0.9999356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004975404654888795,"score_gpt":0.2352407280281337,"score_spread":0.2302653233732449,"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."}}