Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.L245P
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COL17A1

NM_000494.4:p.L245P

Associated Papers

A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele.

Darling TN et al.

The Journal of Investigative Dermatology, 1998

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.

Jonkman MF et al.

Cell, 1997

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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."