{"id":"W2768282080","doi":"10.1016/j.ymgme.2017.11.003","title":"The genotypic and phenotypic spectrum of MTO1 deficiency","year":2017,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre; University of British Columbia; Pacific Centre for Reproductive Medicine; BC Children's Hospital","funders":"Canadian Institutes of Health Research; Medical Research Council; Alberta Children's Hospital Foundation; Children's Hospital Foundation; Wellcome Trust","keywords":"Lactic acidosis; Hypotonia; Biology; Cardiomyopathy; Mitochondrial disease; Muscle biopsy; Phenotype; Failure to thrive; Atrophy; Pathology; Genetics; Internal medicine; Medicine; Endocrinology; Heart failure; Mitochondrial DNA; Biopsy; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002034826,0.0006116949,0.000207687,0.0008265029,0.0002171443,0.0002710182,0.0002484773,0.000316994,0.002884576],"category_scores_gemma":[0.001215628,0.00009113429,0.0001346517,0.000429358,0.0003512494,0.00018312,0.0004826733,0.0001606365,0.0004038737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000100209,"about_ca_system_score_gemma":0.0001506619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002740008,"about_ca_topic_score_gemma":0.0003051327,"domain_scores_codex":[0.9997757,0.00003887366,0.00002947289,0.00004903796,0.00005646561,0.00005044914],"domain_scores_gemma":[0.9996337,0.0001340761,0.0001108048,0.00001648918,0.00004325035,0.00006162206],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006406921,0.0001292698,0.6796346,0.0003632834,0.00007437918,0.2216951,0.001022751,0.0006865727,0.03441717,0.001029114,0.001776909,0.05853011],"study_design_scores_gemma":[0.00002985054,0.0002920151,0.3456715,0.0001850335,0.0000722566,0.6442481,0.0005902696,0.0003075815,0.003398966,0.0008426994,0.004345751,0.00001594002],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923446,0.001715258,0.0005601479,0.0001467853,0.00001207151,0.00002202854,0.0003467634,0.00002767661,0.004824712],"genre_scores_gemma":[0.9989712,0.000415673,0.0002485906,0.0000389004,0.00001212336,0.000006648489,0.0001374507,0.000004269699,0.0001650352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002884576,"threshold_uncertainty_score":0.009649813,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008309377648041762,"score_gpt":0.2360063590825122,"score_spread":0.2276969814344705,"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."}}