{"id":"W1985598347","doi":"10.1002/ajmg.a.31637","title":"Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; SickKids Foundation; Toronto Western Hospital; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Royal College of Physicians of Ireland","keywords":"Heteroplasmy; Missense mutation; Mitochondrial DNA; Biology; Genetics; Molecular biology; Mutation; Proband; Ataxia; Respiratory chain; Mutant; Leigh disease; Mitochondrion; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006181886,0.0001426013,0.0003696761,0.0001341903,0.0000435245,0.000008869462,0.0002272373,0.0001406844,0.0001251759],"category_scores_gemma":[0.0005054743,0.0001267593,0.00009568137,0.0002034766,0.0002276422,0.000002411103,0.0001445976,0.0001501638,0.00001700069],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001767047,"about_ca_system_score_gemma":0.00014052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000154945,"about_ca_topic_score_gemma":0.00009716144,"domain_scores_codex":[0.9982504,0.0001261348,0.0006004983,0.0002335367,0.0005229072,0.0002664853],"domain_scores_gemma":[0.9985707,0.00007179105,0.000297398,0.0002048936,0.0001643568,0.0006909076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003852826,0.0002329826,0.006654185,0.00003292917,0.0002760603,0.001283309,0.001172742,0.0002548898,0.8997723,0.00002033434,0.02931603,0.0571314],"study_design_scores_gemma":[0.005574025,0.030378,0.05189899,0.0002963018,0.0002632268,0.02227827,0.0008199946,0.00008762321,0.3044593,0.0001288706,0.5828263,0.000989055],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9738659,0.0002456094,0.02374631,0.001007172,0.0009201976,0.0001368456,0.00001776798,0.000002814631,0.00005733658],"genre_scores_gemma":[0.9860627,0.0001897267,0.01035581,0.002366201,0.0006645649,0.000003831637,0.00001963758,0.00002190462,0.0003156227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.595313,"threshold_uncertainty_score":0.5169094,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009380102660693933,"score_gpt":0.2732064738449541,"score_spread":0.2638263711842601,"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."}}