Genetic & Genomic MedicinemedRxivPreprint
Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba…·Tommy Stödberg
The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.
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