{"id":"W2106998229","doi":"10.1093/hmg/ddt652","title":"Loss of LRPPRC causes ATP synthase deficiency","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":115,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Max-Planck-Gesellschaft; Deutsche Forschungsgemeinschaft","keywords":"Biology; Leigh disease; Mitochondrion; Cytochrome c oxidase; ATP synthase; Mitochondrial DNA; Citrate synthase; Mitochondrial disease; Respiratory chain; Oxidative phosphorylation; mitochondrial fusion; Gene; Genetics; Molecular biology; Biochemistry; Enzyme","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001422205,0.0001774656,0.0001876859,0.00006360266,0.00007986624,0.00001292473,0.0002411588,0.0001885805,0.00009475082],"category_scores_gemma":[0.0001133657,0.0001842359,0.0001297036,0.00008525475,0.0001803392,0.000001221273,0.0001152098,0.00007889458,0.00002962403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005390894,"about_ca_system_score_gemma":0.00003758255,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008001713,"about_ca_topic_score_gemma":0.00001640564,"domain_scores_codex":[0.9987921,0.0001277333,0.0002888775,0.0003746123,0.0001645027,0.0002522095],"domain_scores_gemma":[0.9990146,0.00001031235,0.0001172404,0.0006363438,0.0001228608,0.00009868544],"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":[0.00002069579,0.00007241491,0.001604466,0.00002279696,0.00001740879,0.000008070479,0.00004182664,0.00027839,0.9946452,0.002313186,0.0005636987,0.0004118621],"study_design_scores_gemma":[0.0006658917,0.000831272,0.002946376,0.00001151278,0.0000519251,0.00004402196,0.00002399797,0.00004731062,0.9373002,0.0005535287,0.05721863,0.0003053593],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9557862,0.0008240127,0.03881471,0.00003435613,0.0002803659,0.000138826,0.00001293178,0.00001545695,0.00409315],"genre_scores_gemma":[0.9966375,0.00007251216,0.002185624,0.0004278107,0.0001810703,0.00001054207,0.00008194276,0.00003442034,0.0003685985],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05734501,"threshold_uncertainty_score":0.751292,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01434181656852359,"score_gpt":0.2603769443519752,"score_spread":0.2460351277834516,"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."}}