Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.D58Splc
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WWOX

NM_016373.4:p.D58Splc

Associated Papers

Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.

You Y et al.

Molecular Genetics & Genomic Medicine, 2024

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Oliver KL et al.

Epilepsia, 2023

36779245 (PubMed )
Supplement: EPI-64-1351-s002.xlsx › Sheet1

Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.

Banne E et al.

Cells, 2021

WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.

Aldaz CM et al.

International Journal of Molecular Sciences, 2020

A Chinese patient with epilepsy and WWOX compound heterozygous mutations.

He J et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

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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."