{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006699175,0.0001209094,0.0002044892,0.00008658568,0.00004633673,0.00001116507,0.0000742652,0.0001773388,0.00001962877],"category_scores_gemma":[0.0002361023,0.0001200508,0.00006720432,0.000155099,0.00007965104,0.00001103408,0.00001855945,0.00007136031,6.270063e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001539815,"about_ca_system_score_gemma":0.00006283302,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003415936,"about_ca_topic_score_gemma":0.0002161015,"domain_scores_codex":[0.9986516,0.0003103239,0.0004305848,0.0003041868,0.0001693059,0.0001340061],"domain_scores_gemma":[0.9992848,0.00002857183,0.0002105599,0.0002141561,0.0002165775,0.00004534516],"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":[0.00008768764,0.0001052176,0.0008713771,0.0000102609,0.00001673441,5.994972e-7,0.0004791854,0.00008872309,0.9859903,0.00009230759,0.00005363183,0.01220392],"study_design_scores_gemma":[0.003947266,0.0006601384,0.4046593,0.00003475956,0.0001400208,0.00001207966,0.0002729956,0.002872349,0.5850624,0.001688941,0.000394719,0.0002550623],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973999,0.000631587,0.001010578,0.00009296773,0.0001928914,0.0003700545,0.0001182718,0.000007017152,0.0001766795],"genre_scores_gemma":[0.9992855,0.0000967419,0.0001404087,0.00004095683,0.00007947029,0.00001982252,0.0002795976,0.000008614286,0.00004888402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4037879,"threshold_uncertainty_score":0.489553,"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."}}