Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.M1384insFs
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COL17A1

NM_000494.4:p.M1384insFs

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

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.

Christiano AM et al.

Experimental Dermatology, 1996

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

McGrath JA et al.

Nature Genetics, 1995

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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."