{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001664041,0.0008038936,0.0004205209,0.0004788554,0.0001845117,0.0002444805,0.0003595572,0.0007389917,0.001718704],"category_scores_gemma":[0.000378032,0.0001790312,0.0002732289,0.0002764097,0.0004400809,0.0001513903,0.0003515685,0.0005241063,0.0007080259],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003222573,"about_ca_system_score_gemma":0.0002282053,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006114639,"about_ca_topic_score_gemma":0.0004398377,"domain_scores_codex":[0.9997457,0.00005260928,0.00003991326,0.00006778319,0.00006345817,0.00003061137],"domain_scores_gemma":[0.9997478,0.00005616993,0.00009942539,0.00002094026,0.00001515921,0.00006052746],"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":[0.0002801081,0.00004786056,0.001327257,0.0001112084,0.00003794895,0.0128837,0.00004170637,0.0001691097,0.9803172,0.0003850756,0.0004577714,0.003941007],"study_design_scores_gemma":[0.0003295492,0.001266673,0.0549458,0.00008053132,0.000299235,0.1904012,0.0001510541,0.003320959,0.7270774,0.0007964523,0.02126296,0.00006818954],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989347,0.002277054,0.004596544,0.0003999547,0.00008160838,0.0000508516,0.0006675725,0.0004402957,0.002139076],"genre_scores_gemma":[0.99597,0.000898767,0.001334584,0.0001205651,0.00002711702,0.00002361524,0.0004917785,0.00005929312,0.0010742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001718704,"threshold_uncertainty_score":0.005749643,"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."}}