Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.A2054V
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COL7A1

NM_000094.4:p.A2054V

Associated Papers

Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.

Darbord D et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene.

Shi BJ et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 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."