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, Maha Al-Awadi, Adila Al‐Kindy, Sohail Khoshnevis, Homa Ghalei, Almundher A. Al-Maawali, Anita H. Corbett
This paper identifies a biallelic EXOSC4 variant causing translational defects and a neurodevelopmental disorder through functional studies in yeast.
medRxiv · Oct 24, 2023 · PreprintGenetic & Genomic Medicine