{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004514039,0.0001579722,0.0001994716,0.0001056762,0.0003040925,0.00006057429,0.000505312,0.00003167096,0.0000254099],"category_scores_gemma":[0.0001399601,0.0001008835,0.0001377357,0.0002489683,0.0007538427,0.000006682657,0.0001327607,0.0001687796,0.000007547436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002854449,"about_ca_system_score_gemma":0.0001382079,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001938665,"about_ca_topic_score_gemma":0.00004481642,"domain_scores_codex":[0.9986027,0.0002530755,0.000479133,0.0001653198,0.0002493708,0.0002503659],"domain_scores_gemma":[0.998602,0.00005605296,0.0005969298,0.0004105919,0.0002252281,0.0001091655],"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":[0.0003671905,0.0002285222,0.01966689,0.00001343246,0.0003082885,0.00005462737,0.00227162,0.00434719,0.9255325,0.0003101118,0.001331654,0.04556803],"study_design_scores_gemma":[0.007645998,0.01333779,0.689531,0.000385118,0.001185321,0.001889578,0.02333115,0.008470356,0.2263496,0.007170828,0.01839554,0.002307778],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973938,0.0007269917,0.0006339903,0.0006502129,0.00009084799,0.0001237817,0.000007795144,0.000004520285,0.0003680747],"genre_scores_gemma":[0.9978384,0.0001396441,0.0006861226,0.0004707421,0.0007243982,0.000005218581,0.000006296271,0.00002447514,0.0001047054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6991828,"threshold_uncertainty_score":0.4113909,"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."}}