Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R475G
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DDX3X

NM_001356.5:p.R475G

Associated Papers

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

Mutant forms of DDX3X with diminished catalysis form hollow condensates that exhibit sex-specific regulation.

Owens MC et al.

Biorxiv : the Preprint Server for Biology, 2023

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

The human DEAD-box helicase DDX3X as a regulator of mRNA translation.

Ryan CS et al.

Frontiers in Cell and Developmental Biology, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Lennox AL et al.

Neuron, 2020

A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.

Chen Y et al.

Frontiers in Pediatrics, 2020

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.

Nicola P et al.

American Journal of Medical Genetics. Part A, 2019

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L et al.

American Journal of Human Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."