Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.K297*
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WWOX

NM_016373.4:p.K297*

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

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_MOESM3_ESM.xlsx › Feuil1

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

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

Alkhateeb AM et al.

Metabolic Brain Disease, 2016

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

Valduga M et al.

Journal of Human Genetics, 2015

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

Mignot C et al.

Journal of Medical Genetics, 2015

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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."