A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation
Fasken, Milo B., Leung, Sara W., Cureton, Lauryn A., Al-Awadi, Maha, Al-Kindy, Adila, van Hoof, Ambro, Khoshnevis, Sohail, Ghalei, Homa, Al-Maawali, Almundher, Corbett, Anita H.
Published in The Journal of biological chemistry (01.08.2024)
Published in The Journal of biological chemistry (01.08.2024)
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Journal Article
A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder
Fasken, Milo B, Leung, Sara W, Cureton, Lauryn A, Al-Awadi, Maha, Al-Kindy, Adila, Khoshnevis, Sohail, Ghalei, Homa, Al-Maawali, Almundher, Corbett, Anita H
Published in medRxiv : the preprint server for health sciences (28.10.2023)
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Published in medRxiv : the preprint server for health sciences (28.10.2023)
Journal Article