Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
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DOI: 10.1038/s41588-025-02209-y
Abstract: R-loops are DNA–RNA hybrid structures that may promote mutagenesis. However, their contribution to human Mendelian disorders is unexplored. Here we show excess de novo variants in genomic regions that form R-loops (henceforth, ‘R-loop regions’) and… read more here.
Keywords: rnu2 rnu5b; loop forming; regions identifies; forming regions ... See more keywords