Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.E404D
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EPHX1

NM_001136018.4:p.E404D

Associated Papers

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.

Gautheron J et al.

Elife, 2021

The Multifaceted Role of Epoxide Hydrolases in Human Health and Disease.

Gautheron J et al.

International Journal of Molecular Sciences, 2020

Genetic enhancement of microsomal epoxide hydrolase improves metabolic detoxification but impairs cerebral blood flow regulation.

Marowsky A et al.

Archives of Toxicology, 2016

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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."