Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy medrxiv.org/cgi/content/sh… #medRxiv

Preprint from team who previously discovered RNU4-2 syndrome: mutations in RNU2-2P also cause neurodevelopmental disorder; Finding could enable diagnosis for patients testing negative for RNU4-2 mutations doi.org/10.1101/2024.0… Genomics England NIHR BioResource NORD