Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.E478G
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KRT1

NM_006121.4:p.E478G

Associated Papers

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.

Cheng W et al.

Frontiers in Immunology, 2025

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

Marín-García PJ et al.

Veterinary Sciences, 2022

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.

Caroppo F et al.

Clinical Case Reports, 2020

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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."