Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.G504E
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DDX3X

NM_001356.5:p.G504E

Associated Papers

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

39500865 (PubMed )
Supplement: 41467_2024_53636_MOESM8_ESM.zip › Owens__Shen_et_al._Source_Data › Owens__Shen_et_al._Source_Data_Tables.xlsx › Figure_7

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Rafat K et al.

Molecular Syndromology, 2023

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

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

Chen Y et al.

Frontiers in Pediatrics, 2020

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."