Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.V365fs
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WWOX

NM_016373.4:p.V365fs

Associated Papers

Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.

Banne E et al.

Cells, 2021

33916893 (PubMed )
Supplement: cells-10-00824-s001.zip › supplementary_materials › Table_1_SuppInfo-Published_WWOX-related_epilepsy_patients-full_table_related_to_Table_1_v2.xlsx › Published_WWOX-related_epilepsy

WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.

Aldaz CM et al.

International Journal of Molecular Sciences, 2020

Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy.

Tochigi Y et al.

International Journal of Molecular Sciences, 2019

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
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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."