Genetic & Genomic MedicinemedRxivPreprint
A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder
Milo B. Fasken, Sara W. Leung, Lauryn A. Cureton…·Anita H. Corbett
This paper identifies a biallelic EXOSC4 variant causing translational defects and a neurodevelopmental disorder through functional studies in yeast.