Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.P324R
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DDX3X

NM_001356.5:p.P324R

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

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

Chen Y et al.

Frontiers in Pediatrics, 2020

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X et al.

Annals of Clinical and Translational Neurology, 2018

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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."