{"id":"W2044034272","doi":"10.1007/s004390051028","title":"Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients","year":2000,"lang":"en","type":"article","venue":"Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Biology; Leigh disease; Cytochrome c oxidase; Missense mutation; Genetics; Nonsense mutation; Molecular biology; Mutation; Gene; Mitochondrion","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002537121,0.00187624,0.000611015,0.00208934,0.0006946609,0.0005023369,0.0008349025,0.001505138,0.003952624],"category_scores_gemma":[0.001753757,0.0004186771,0.0006263637,0.001265993,0.001085625,0.0002903247,0.0006572169,0.0004852872,0.0008300355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005534872,"about_ca_system_score_gemma":0.0003172014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003626651,"about_ca_topic_score_gemma":0.002315865,"domain_scores_codex":[0.9996896,0.00004808052,0.0000558464,0.00006689819,0.00008575655,0.0000538252],"domain_scores_gemma":[0.9990968,0.0003118438,0.0003319009,0.00003679883,0.00005879146,0.0001638516],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002600168,0.0001407367,0.0958792,0.0002592324,0.0003725476,0.6710423,0.002279732,0.001286231,0.205846,0.001547423,0.002854632,0.01589182],"study_design_scores_gemma":[0.0003888281,0.0006380778,0.2622627,0.0001135587,0.0006303226,0.6690348,0.0008730319,0.004099122,0.05589545,0.00116599,0.004720484,0.0001777764],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967393,0.0003966682,0.000793958,0.0002235603,0.00005063334,0.00002769685,0.0003680765,0.0001077374,0.001292312],"genre_scores_gemma":[0.998743,0.00007531648,0.00045754,0.00005098112,0.00003963929,0.000009180599,0.0001337937,0.00002001597,0.0004704812],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003952624,"threshold_uncertainty_score":0.01322281,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01287659285845313,"score_gpt":0.239729962945415,"score_spread":0.2268533700869619,"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."}}