Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R534insFs
Back to variants list

DDX3X

NM_001356.5:p.R534insFs

Associated Papers

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

Chen Y et al.

Frontiers in Pediatrics, 2020

32714884 (PubMed )
Supplement: Data_Sheet_1.pdf

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."