Article

Analysis of R-loop forming regions identifies<i>RNU2-2P</i>and<i>RNU5B-1</i>as neurodevelopmental disorder genes

2024-10-06

Abstract excerpt

R-loops are critical for gene regulation but their contribution to human Mendelian disorders has not been explored. We show that in rare disease cohorts de novo variants are highly prevalent in genomic regions which form R-loops. Using this insight, we demonstrate that variants in two novel disorder genes, RNU2-2P and RNU5B-1 , together with the recently described RNU4-2 provide a genetic explanation for an except...

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Literature Corpus work: 55e18c43-4668-5911-827a-2c50450a46b6
DOI: 10.1101/2024.10.04.24314692

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