{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001766246,0.0001279498,0.000144721,0.00002286114,0.0003945823,0.00006936835,0.0002238782,0.0001063783,0.000006692222],"category_scores_gemma":[0.0001006611,0.00009704158,0.00005298744,0.00002112564,0.0003234233,0.000002085038,0.0002235325,0.00006707627,0.00000195921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001165802,"about_ca_system_score_gemma":0.00003189695,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001896668,"about_ca_topic_score_gemma":0.00003434447,"domain_scores_codex":[0.9992117,0.00005392727,0.0001667546,0.000273811,0.00009247367,0.0002013638],"domain_scores_gemma":[0.9991161,0.000008077547,0.0001276859,0.0006215114,0.00004842257,0.00007824492],"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":[0.0000448649,0.00001612131,0.001149658,0.000009356942,0.00003054299,0.000002867887,0.00004199603,0.000008478789,0.970651,0.01394869,0.0001425347,0.01395386],"study_design_scores_gemma":[0.001276524,0.0002352141,0.1093284,0.000006816571,0.0001288928,0.00005776506,0.00005098606,0.00008743569,0.5733849,0.008022428,0.3070837,0.000336881],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9556834,0.03606456,0.004982652,0.0003458324,0.0005271168,0.0001559398,0.000009441727,0.000003653513,0.002227371],"genre_scores_gemma":[0.9917169,0.006362768,0.001106131,0.0001599203,0.0001497485,0.000008052058,0.000006261372,0.00001605391,0.0004741395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3972661,"threshold_uncertainty_score":0.3957241,"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."}}