{"id":"W2791862056","doi":"10.1016/j.ajhg.2018.02.011","title":"Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":89,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; McGill University; Université de Montréal; Montreal Clinical Research Institute; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie; ZonMw; Compute Canada; Faculty of Medicine, McGill University; McGill University","keywords":"Leukodystrophy; Genetics; Allele; Aminoacyl tRNA synthetase; Biology; Mutation; Transfer RNA; Gene; Medicine; RNA; Disease; Internal medicine","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":[0.0002395226,0.001727529,0.0003830073,0.001113772,0.0006080278,0.0004937229,0.0004920895,0.001204004,0.002659727],"category_scores_gemma":[0.0006667932,0.0003742406,0.000379038,0.0008113516,0.0008250857,0.000306674,0.0008519345,0.0009714415,0.0008993692],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003110618,"about_ca_system_score_gemma":0.0002717553,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005588385,"about_ca_topic_score_gemma":0.0007585605,"domain_scores_codex":[0.9997059,0.00004719916,0.00004908432,0.00006635689,0.00009503328,0.00003653928],"domain_scores_gemma":[0.9993425,0.0001581689,0.0001754039,0.00003458809,0.00002982738,0.0002595312],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001858764,0.000407368,0.01706112,0.0001244439,0.0002010017,0.1268598,0.0003698457,0.0006078539,0.8359978,0.00198024,0.0008043511,0.01372743],"study_design_scores_gemma":[0.0006029037,0.001390482,0.1643034,0.00006905798,0.0005515552,0.6531188,0.0006361062,0.00422048,0.162057,0.003009509,0.009887573,0.0001531535],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946797,0.0002987144,0.001945819,0.000397047,0.00007520963,0.00002811998,0.0004319284,0.0001238653,0.002019566],"genre_scores_gemma":[0.9964333,0.0001405052,0.001434435,0.0001406297,0.00003905882,0.00001059598,0.0002671228,0.00004411654,0.001490317],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002659727,"threshold_uncertainty_score":0.008897722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01935138843313552,"score_gpt":0.2930803887812717,"score_spread":0.2737290003481362,"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."}}