Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.P1225insFs
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COL17A1

NM_000494.4:p.P1225insFs

Associated Papers

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.

Pasmooij AM et al.

The British Journal of Dermatology, 2007

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.

Bauer JW et al.

Clinical and Experimental Dermatology, 2003

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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."