Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective THOC2 variants in NDDs and a broad range of other clinical feat...

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Bibliographic Details
Main Authors: Raman Kumar, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Vanessa Atkinson, Michael Black, Gareth Baynam, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Molecular Neuroscience
Subjects:
mRNA export
THOC2
intellectual disability
neurodevelopmental disorders
microdeletion
Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2020.00012/full

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