Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R296P
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DDX3X

NM_001356.5:p.R296P

Associated Papers

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_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_S21_LENNOX_composite_phenotypic_score.xlsx › Supplementary_Data_S17_LENNOX_c

The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.

Gadek M et al.

Trends in Molecular Medicine, 2023

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."