Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R292fs
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DDX3X

NM_001356.5:p.R292fs

Associated Papers

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.

Nicola P et al.

American Journal of Medical Genetics. Part A, 2019

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."