{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000112372,0.001189312,0.0003916284,0.0006874776,0.000309924,0.0004170905,0.0004219766,0.001301961,0.001815326],"category_scores_gemma":[0.0006763719,0.0002220517,0.0003388333,0.0004456836,0.0004874418,0.0001966081,0.0003582303,0.0004865336,0.0004897047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003281964,"about_ca_system_score_gemma":0.0002094395,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001309143,"about_ca_topic_score_gemma":0.002323454,"domain_scores_codex":[0.9997855,0.00002510416,0.0000257953,0.00003588735,0.000100686,0.00002706508],"domain_scores_gemma":[0.9995843,0.000111862,0.0001400183,0.00002142872,0.00003144365,0.0001110296],"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":[0.001462579,0.000187243,0.02616121,0.0001632143,0.0002400117,0.130602,0.0002800124,0.001619761,0.8072915,0.002566552,0.003055795,0.02637006],"study_design_scores_gemma":[0.0006706682,0.0008701373,0.2055629,0.0001783868,0.0005755646,0.2802074,0.0005866637,0.01244605,0.4659889,0.005817916,0.02691074,0.0001846184],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942655,0.000601007,0.001599739,0.0003006398,0.0001539879,0.00001717998,0.0004158768,0.0001507225,0.002495366],"genre_scores_gemma":[0.9973072,0.0001881891,0.0009158531,0.00005658258,0.00004977524,0.000004795508,0.0002022444,0.00005007138,0.001225231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001815326,"threshold_uncertainty_score":0.006072819,"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."}}