Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.R264*
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WWOX

NM_016373.4:p.R264*

Associated Papers

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.

Chen Y et al.

Seizure, 2025

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

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

Oliver KL et al.

Epilepsia, 2023

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.

Agarwala P et al.

Brain Communications, 2023

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

Riva A et al.

Frontiers in Pediatrics, 2022

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

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

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

Aldaz CM et al.

Biochimica Et Biophysica Acta, 2014

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