Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2043E
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COL7A1

NM_000094.4:p.G2043E

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 Excoriée: A Deceptive Pruritic Variant in Two Female Patients.

Gostyńska KB et al.

Acta Dermato-venereologica, 2016

Successful Use of Upadacitinib in Treating a Child With Epidermolysis Bullosa Pruriginosa: A Case Report and Literature Review.

Wu X et al.

Pediatric Dermatology, 0

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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."