Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.P47R
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WWOX

NM_016373.4:p.P47R

Associated Papers

Genetic and Functional Evidence Links Germline Biallelic Inactivating Variants in WWOX to Histological Mixed-Type Thyroid Cancer.

Zhang X et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

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

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

WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.

Serin HM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

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

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Palmer EE et al.

Molecular Genetics & Genomic Medicine, 2018

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

Tanna M et al.

Frontiers in Oncology, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

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

Alkhateeb AM et al.

Metabolic Brain Disease, 2016

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL et al.

Neurology. Genetics, 2016

27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2

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."