Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.W172_H173Splc
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WWOX

NM_016373.4:p.W172_H173Splc

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

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

Battaglia L et al.

Frontiers in Pediatrics, 2023

Modeling genetic epileptic encephalopathies using brain organoids.

Steinberg DJ et al.

Embo Molecular Medicine, 2021

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

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Weisz-Hubshman M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019

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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."