Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G174delFs
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COL7A1

NM_000094.4:p.G174delFs

Associated Papers

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

Vahidnezhad H et al.

The Journal of Investigative Dermatology, 2017

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N et al.

Experimental Dermatology, 2008

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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."