Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.S259P
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WWOX

NM_016373.4:p.S259P

Associated Papers

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

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy.

Yang C et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2019

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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."