Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.G1316_G1317insFs
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COL17A1

NM_000494.4:p.G1316_G1317insFs

Associated Papers

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."