Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.S304Y
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WWOX

NM_016373.4:p.S304Y

Associated Papers

[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].

Wang T et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report.

Feng D et al.

Frontiers in Pediatrics, 2024

Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability.

Bayanova M et al.

Molecular Neurobiology, 2023

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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."