Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.D479_R480delins
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DDX3X

NM_001356.5:p.D479_R480delins

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

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Scala M et al.

European Journal of Human Genetics : Ejhg, 2019

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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."