{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009271357,0.0008862207,0.0001670163,0.0005440071,0.0008224843,0.0002493915,0.00038797,0.0007681143,0.00169057],"category_scores_gemma":[0.0006863843,0.0002010555,0.0001843901,0.0004623717,0.0006552859,0.0001218132,0.0001936876,0.0004291291,0.000284484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001365009,"about_ca_system_score_gemma":0.001263972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.08494394,"about_ca_topic_score_gemma":0.1129544,"domain_scores_codex":[0.9998647,0.00001367666,0.000007414601,0.00003256696,0.00004175372,0.00003994211],"domain_scores_gemma":[0.9998181,0.00003858231,0.00004996223,0.000006484924,0.00001925685,0.00006754959],"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":[0.001935554,0.0003552623,0.1214356,0.000221432,0.0001250656,0.5365562,0.002240195,0.0008378833,0.3173683,0.001582982,0.00199554,0.01534595],"study_design_scores_gemma":[0.0003248742,0.0009628119,0.4490395,0.00007656002,0.0002181368,0.5013595,0.0007074998,0.002785396,0.03583013,0.0007285027,0.007879512,0.00008761316],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975957,0.0002716811,0.0004531871,0.0001776266,0.00002167392,0.00002576329,0.0001426521,0.00003198167,0.001279774],"genre_scores_gemma":[0.9980294,0.0001085881,0.000356324,0.00008416207,0.00002602715,0.000006205843,0.0001214843,0.000006575375,0.00126115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08494394,"threshold_uncertainty_score":0.1688991,"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."}}