{"id":"W2102995132","doi":"10.1002/mus.21355","title":"Identification of ataxia‐associated mtDNA mutations (m.4052T&gt;C and m.9035T&gt;C) and evaluation of their pathogenicity in transmitochondrial cybrids","year":2009,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; National Research Council Canada; Institute for Biological Sciences","funders":"","keywords":"Reactive oxygen species; Oligomycin; Ataxia; Biology; Genetics; Mutation; Mutant; Oxidative phosphorylation; Programmed cell death; Point mutation; Mitochondrial DNA; Molecular biology; Internal medicine; Endocrinology; Biochemistry; Apoptosis; Gene; ATPase; Medicine; Enzyme","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":[0.0002172559,0.0004709002,0.0002729969,0.000462373,0.0002291339,0.0001632854,0.0001708018,0.000520357,0.001236073],"category_scores_gemma":[0.0003050533,0.0001059718,0.0002133541,0.0002011357,0.0002365502,0.00009912437,0.0001965367,0.0001895809,0.0002108595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001891302,"about_ca_system_score_gemma":0.0001630032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006987463,"about_ca_topic_score_gemma":0.0008065792,"domain_scores_codex":[0.9998794,0.00002504917,0.00002275964,0.00003647195,0.00002363378,0.00001274006],"domain_scores_gemma":[0.9998677,0.00003952729,0.00003541498,0.0000127901,0.00001238664,0.00003217487],"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":[0.0001530107,0.00003860586,0.001912157,0.00003268532,0.00001078122,0.00109792,0.00006425563,0.00007773323,0.9952185,0.000136679,0.00001995523,0.001237675],"study_design_scores_gemma":[0.0002198549,0.003501652,0.07780871,0.00004847738,0.0002424792,0.02152723,0.000293467,0.004313897,0.8869779,0.0003524083,0.004675089,0.00003900237],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982141,0.000153287,0.0009498976,0.00002190369,0.000006586585,0.00003392736,0.0001781193,0.0000191912,0.0004230642],"genre_scores_gemma":[0.9977385,0.0002146465,0.001216124,0.00001192663,0.000004568456,0.00002854847,0.0003017832,0.00001082183,0.0004731507],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001236073,"threshold_uncertainty_score":0.004135132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01748565302671266,"score_gpt":0.2624721604325327,"score_spread":0.24498650740582,"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."}}