Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.E306delFs
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WWOX

NM_016373.4:p.E306delFs

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

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.

Stojanovic JR et al.

Journal of Child Neurology, 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

30356099 (PubMed )
Supplement: 41436_2018_339_MOESM1_ESM.xlsx › Feuil1

Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.

Ehaideb SN et al.

Translational Neuroscience, 2018

Practical clues for diagnosing WWOX encephalopathy.

Tarta-Arsene O et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2017

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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."