{"id":"W3091062127","doi":"10.1210/clinem/dgaa700","title":"Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>","year":2020,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Hospital for Sick Children; Alberta Children's Hospital; University of Toronto; Montreal Children's Hospital; Université de Sherbrooke; Montreal Neurological Institute and Hospital; BC Children's Hospital; Centre Hospitalier Universitaire de Sherbrooke; University of British Columbia; McGill University Health Centre; McGill University; University of Ottawa; Hôpital Fleurimont; University of Calgary; Children's Hospital of Eastern Ontario; Centre hospitalier universitaire de Québec","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; McGill University Health Centre; Compute Canada; Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie; BC Children’s Hospital Foundation; BC Children's Hospital; Children's Hospital Foundation; Faculty of Medicine, McGill University; McGill University","keywords":"Leukodystrophy; Endocrine system; Medicine; Internal medicine; Endocrinology; Disease","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":[0.0003494527,0.0002115505,0.000212973,0.0008893255,0.000273349,0.000332866,0.0001977378,0.0002582963,0.00110575],"category_scores_gemma":[0.000985957,0.0001644363,0.0002419971,0.0007839735,0.0003002142,0.0002836064,0.0003006379,0.0001720937,0.0001797795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002367086,"about_ca_system_score_gemma":0.0001950313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001529748,"about_ca_topic_score_gemma":0.001680565,"domain_scores_codex":[0.9998248,0.00003202349,0.00003267369,0.00005064488,0.00003053256,0.00002937856],"domain_scores_gemma":[0.9991316,0.000154796,0.0005313485,0.00002799837,0.00005569899,0.0000985025],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005092876,0.000006096289,0.9983815,0.000006406214,0.000008840289,0.0004848042,0.00004550085,0.00001555798,0.0004944298,0.00000436063,0.0000148103,0.0004868862],"study_design_scores_gemma":[0.000004672668,0.00007753396,0.9958284,0.000004244333,0.00001340396,0.00371207,0.0001042909,0.00003006093,0.000141943,0.000006569527,0.00007511646,0.000001601682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995952,0.0001258729,0.00002350418,0.000004597167,7.834598e-7,0.000003828519,0.00009648794,0.000001614064,0.0001479992],"genre_scores_gemma":[0.9996575,0.00006434035,0.00005140041,0.00001001713,0.000002345741,0.000003383032,0.0001784276,7.285038e-7,0.00003176618],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001529748,"threshold_uncertainty_score":0.003699124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02218750714368965,"score_gpt":0.3000166916881701,"score_spread":0.2778291845444805,"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."}}