{"id":"W2061052195","doi":"10.1093/hmg/ddu468","title":"Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research","keywords":"Biology; Molecular biology; Mitochondrion; Genetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001487158,0.000646969,0.000215823,0.0007467204,0.0004860045,0.0002336419,0.0002729318,0.0005705819,0.002354298],"category_scores_gemma":[0.0004463856,0.000183687,0.0002944121,0.0002870051,0.0005212106,0.00007848181,0.0002947876,0.0004072076,0.0002579053],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00134016,"about_ca_system_score_gemma":0.0006953752,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.09265833,"about_ca_topic_score_gemma":0.09335257,"domain_scores_codex":[0.9997498,0.00003725502,0.00001831236,0.00006107729,0.0000762878,0.00005719384],"domain_scores_gemma":[0.9997591,0.00006248496,0.00005347758,0.00001214171,0.00003740421,0.00007524471],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002487272,0.00002295837,0.004439409,0.00003030514,0.00003035443,0.007318648,0.0001632915,0.0001868655,0.9850737,0.000114478,0.0002480313,0.002123308],"study_design_scores_gemma":[0.0001310871,0.001015876,0.5501388,0.00004435742,0.0002297184,0.06232679,0.001059694,0.003751123,0.3682901,0.0002778236,0.01262083,0.0001138795],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971111,0.0005229993,0.0005036223,0.0001510077,0.00001842056,0.00001915011,0.0002943119,0.00004309027,0.001336324],"genre_scores_gemma":[0.9975158,0.0002217475,0.0004105942,0.0001011579,0.0000073958,0.00001516498,0.0003270067,0.00001687192,0.00138424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9073417,"threshold_uncertainty_score":0.184238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0179229326063776,"score_gpt":0.2606786778342757,"score_spread":0.2427557452278981,"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."}}