{"id":"W2514286461","doi":"10.1038/ng.3661","title":"Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts","year":2016,"lang":"en","type":"article","venue":"Nature Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; BC Cancer Agency","funders":"National Heart, Lung, and Blood Institute; College of Pharmacy, University of Michigan; National Institute of Neurological Disorders and Stroke; Centre National de la Recherche Scientifique; University of Michigan; Agence Nationale de la Recherche; Biotechnology and Biological Sciences Research Council; Great Ormond Street Hospital Charity; Newlife the Charity for Disabled Children; Wellcome Trust","keywords":"Biology; Small nucleolar RNA; Leukoencephalopathy; Ribosome biogenesis; Phenotype; Genetics; Mutation; Transcriptome; Ribosomal protein; Ribosome; Gene; Gene expression; Pathology; Disease; Non-coding RNA; RNA","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00008075355,0.0001102499,0.00006754896,0.0000393496,0.0001031097,0.00002372298,0.0001643944,0.0001588806,0.000006677843],"category_scores_gemma":[0.00002739844,0.00006136162,0.00002431794,0.0001472007,0.000166986,0.000003805628,0.00003920886,0.0001179576,0.000004294865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001821054,"about_ca_system_score_gemma":0.00009392411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008733147,"about_ca_topic_score_gemma":0.0003392722,"domain_scores_codex":[0.9992964,0.00003651847,0.0001275194,0.0002775395,0.0000917223,0.0001702969],"domain_scores_gemma":[0.9993948,0.00001562799,0.00005035277,0.0003965777,0.00009356789,0.00004905276],"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":[0.0001202337,0.0001641502,0.2946632,0.00001803248,0.00009957071,0.00001175541,0.0007153811,0.0001675766,0.6589249,0.001594642,0.003639905,0.03988067],"study_design_scores_gemma":[0.001653738,0.0002969032,0.7832767,0.00005053764,0.0000726298,0.0001318851,0.0004299992,0.00006391174,0.1243995,0.0005118126,0.08863247,0.0004799025],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909619,0.005203647,0.001639307,0.001588143,0.00006912126,0.0001961673,0.00005302799,0.000006895834,0.0002817882],"genre_scores_gemma":[0.9971693,0.0007876128,0.001016282,0.0002679907,0.0001170276,0.00006724513,0.00003120841,0.0000163014,0.0005270847],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5345254,"threshold_uncertainty_score":0.2502255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007472872628438752,"score_gpt":0.2490559449925569,"score_spread":0.2415830723641181,"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."}}