Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.I145insFs
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COL7A1

NM_000094.4:p.I145insFs

Associated Papers

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

Dang N et al.

Experimental Dermatology, 2008

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D et al.

Journal of Human Genetics, 2005

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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."