{"id":"W4417467351","doi":"10.1159/000550116","title":"Leber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report","year":2025,"lang":"en","type":"article","venue":"Case Reports in Ophthalmology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kensington Health; University of Toronto; St. Michael's Hospital","funders":"","keywords":"Mutation; Gene; Differential diagnosis; Gene mutation","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":[0.0003923343,0.002446447,0.001373959,0.003137908,0.002528458,0.002069017,0.001190172,0.004582994,0.00309239],"category_scores_gemma":[0.001856895,0.001397491,0.001288594,0.001453632,0.002080012,0.002265445,0.001895125,0.002369737,0.0007685024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001323795,"about_ca_system_score_gemma":0.0007741739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002346483,"about_ca_topic_score_gemma":0.002787665,"domain_scores_codex":[0.9992336,0.00006451425,0.00008224582,0.0002343788,0.0001307032,0.0002546665],"domain_scores_gemma":[0.9987336,0.0003183214,0.0002900611,0.00011556,0.00008049837,0.0004620664],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001487183,0.00001883067,0.002105787,0.00001620296,0.000006561006,0.9966398,0.00007629865,0.00002192373,0.0005360501,0.00007155014,0.0001274048,0.0003646718],"study_design_scores_gemma":[0.000009594593,0.0000247952,0.00216843,0.000007076296,0.000009187282,0.9971299,0.00006010156,0.00009495469,0.0002116574,0.00006751564,0.0002096021,0.000007244783],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9838234,0.004564676,0.002199205,0.002056085,0.0003328247,0.0001432875,0.0002664668,0.000200574,0.006413406],"genre_scores_gemma":[0.9960421,0.001023132,0.0008483034,0.0003536843,0.0005966719,0.00002115726,0.00009197135,0.00002154334,0.001001378],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004582994,"threshold_uncertainty_score":0.01034504,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01669738313755754,"score_gpt":0.2907220441082424,"score_spread":0.2740246609706849,"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."}}