Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R480S
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DDX3X

NM_001356.5:p.R480S

Associated Papers

DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.

Fiorenzani C et al.

Trends in Genetics : Tig, 2025

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."