Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.G372R
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WWOX

NM_016373.4:p.G372R

Associated Papers

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

Oliver KL et al.

Epilepsia, 2023

Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene.

Sukkar G et al.

Cureus, 2022

Modeling genetic epileptic encephalopathies using brain organoids.

Steinberg DJ et al.

Embo Molecular Medicine, 2021

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

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H et al.

European Journal of Human Genetics : Ejhg, 2020

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

Iacomino M et al.

Frontiers in Neuroscience, 2020

Germline mutation and aberrant transcripts of WWOX in a syndrome with multiple primary tumors.

Xu A et al.

The Journal of Pathology, 2019

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

Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

Davids M et al.

Human Mutation, 2019

30362252 (PubMed )
Supplement: supplement_1.docx

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Shaukat Q et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2018

Modeling WWOX Loss of Function in vivo: What Have We Learned?

Tanna M et al.

Frontiers in Oncology, 2018

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

Ehaideb SN et al.

Translational Neuroscience, 2018

Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.

Alkhateeb AM et al.

Metabolic Brain Disease, 2016

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

Ben-Salem S et al.

Journal of Molecular Neuroscience : Mn, 2015

The fragile site WWOX gene and the developing brain.

Tabarki B et al.

Experimental Biology and Medicine (maywood, N.j.), 2015

Introduction to a thematic issue for WWOX.

Chang NS

Experimental Biology and Medicine (maywood, N.j.), 2015

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Mignot C et al.

Journal of Medical Genetics, 2015

WW domain-containing oxidoreductase in neuronal injury and neurological diseases.

Chang HT et al.

Oncotarget, 2014

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

Aldaz CM et al.

Biochimica Et Biophysica Acta, 2014

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

Mallaret M et al.

Brain : a Journal of Neurology, 2014

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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."