Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R292L
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DDX3X

NM_001356.5:p.R292L

Associated Papers

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

Kennis MGP et al.

European Journal of Human Genetics : Ejhg, 2025

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

Bi Y et al.

Human Molecular Genetics, 2025

Prospective and detailed behavioral phenotyping in DDX3X syndrome.

Tang L et al.

Molecular Autism, 2021

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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."