Article

Human Mendelian disease and <i>in vivo</i> mutagenesis screening define the molecular architecture of the U8 snoRNA

2025-10-10

Abstract excerpt

Over 50 mutations in the vertebrate specific box C/D small nucleolar RNA U8 have been reported to cause leukoencephalopathy with calcifications and cysts (LCC), a progressive cerebral microangiopathy presenting at any age between early infancy and late adulthood. Notably, the majority of these disease-associated mutations are annotated as variants of uncertain significance due to an inability to predict their effe...

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Literature Corpus work: eda415d4-85f3-5b68-86c1-7e9a5f17ace9
DOI: 10.1101/2025.10.10.681432

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