Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2587D
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COL7A1

NM_000094.4:p.G2587D

Associated Papers

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

Escámez MJ et al.

The British Journal of Dermatology, 2010

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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."