Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.W44*
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WWOX

NM_016373.4:p.W44*

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

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

Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome

Al Baradie R et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2022

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.

Riva A et al.

Frontiers in Pediatrics, 2022

35573960 (PubMed )
Supplement: Table_1.docx

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

33255508 (PubMed )
Supplement: ijms-21-08922-s001.zip › IJMS_review-CMA_and_TH › Supplementray_Table_1.xlsx › Sheet1

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 deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus.

Hussain T et al.

Neurobiology of Disease, 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

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

Ehaideb SN et al.

Translational Neuroscience, 2018

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

Elsaadany L et al.

Bmc Medical Genetics, 2016

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T et al.

Human 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."