Journal of human genetics
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, Nobuhiko Okamoto, Mei Yan Chan, Tomohide Goto, Seiichi Hayakawa, Mitsuhiro Kato, Chong Ae Kim, Dorit Lev, Lip Hen Moey, Juliet Taylor, Nerine Gregersen, Ifat Nezer-Kaner, Wee Teik Keng
Published: 202510.1038/s10038-025-01442-x
Abstract
The accurate removal of intronic sequences from pre-mRNA by the spliceosome is essential for correct gene expression, with small nuclear RNAs (snRNAs) such as U4 playing structural and regulatory roles in catalyzing this. De novo variants in the high…
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