Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees…·Ernest Turro
The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.
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