Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.L556S
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DDX3X

NM_001356.5:p.L556S

Associated Papers

A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders.

Rosa E Silva I et al.

International Journal of Biological Macromolecules, 2024

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

Radford EJ et al.

Nature Communications, 2023

38057330 (PubMed )
Supplement: 41467_2023_43041_MOESM1_ESM.pdf

Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X.

de Castro Fonseca M et al.

Iscience, 2021

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

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Carneiro TN et al.

The Application of Clinical Genetics, 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."