Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.H527fs
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DDX3X

NM_001356.5:p.H527fs

Associated Papers

Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.

Bi Y et al.

Human Molecular Genetics, 2025

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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."