{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006556046,0.0002242545,0.0006774674,0.00008426084,0.00005178246,0.00002192473,0.0003087838,0.0001325342,0.00001701614],"category_scores_gemma":[0.0008746965,0.0001636021,0.0001269293,0.0001457374,0.0004783425,0.00002850355,0.0002006129,0.0005182467,0.000002345621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004869862,"about_ca_system_score_gemma":0.000122946,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008559301,"about_ca_topic_score_gemma":0.00002863411,"domain_scores_codex":[0.997171,0.0007537457,0.001221506,0.0002752201,0.0001860262,0.0003925341],"domain_scores_gemma":[0.9987515,0.0002198298,0.0004163066,0.0002015813,0.00009795507,0.000312788],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0115016,0.001287677,0.663929,0.0002144624,0.0008685972,0.0009780454,0.001525995,0.0002727788,0.2631282,0.01066919,0.02733056,0.01829388],"study_design_scores_gemma":[0.02114767,0.001199011,0.8724483,0.00004594714,0.0003204371,0.0007461479,0.0006415932,0.0001986495,0.01495027,0.001932259,0.085769,0.0006007157],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767749,0.01321909,0.000111415,0.009262266,0.0002120539,0.000145732,0.000023069,0.000005965304,0.0002455559],"genre_scores_gemma":[0.9787052,0.01399762,0.0001315076,0.006546861,0.0005023063,0.000003715002,0.000007076091,0.00001975602,0.00008602096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2481779,"threshold_uncertainty_score":0.66715,"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."}}