Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.A166insFs
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DYNAP

NM_173629.3:p.A166insFs

Associated Papers

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

Dang N et al.

Experimental Dermatology, 2008

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV et al.

The Journal of Investigative Dermatology, 1999

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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."