Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.H173fs
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WWOX

NM_016373.4:p.H173fs

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-s001.docx

Neuroimaging features of WOREE syndrome: a mini-review of the literature.

Battaglia L et al.

Frontiers in Pediatrics, 2023

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_MOESM1_ESM.xlsx › Feuil1

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 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."