A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder

The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Mutations in EXOSC genes encoding structural subunits of the complex are linked to several autosomal recessive disorders. Here, we describe a missense allele of the EXOSC4 gene, which causes a...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635191/
https://www.ncbi.nlm.nih.gov/pubmed/37961665
http://dx.doi.org/10.1101/2023.10.24.23297197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635191/
https://www.ncbi.nlm.nih.gov/pubmed/37961665
http://dx.doi.org/10.1101/2023.10.24.23297197

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