Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.S318L
Back to variants list

WWOX

NM_016373.4:p.S318L

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

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.

Iacomino M et al.

Frontiers in Neuroscience, 2020

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies.

Aldaz CM et al.

Biochimica Et Biophysica Acta, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."