Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2028W
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COL7A1

NM_000094.4:p.G2028W

Associated Papers

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Almaani N et al.

Acta Dermato-venereologica, 2011

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Varki R et al.

Journal of Medical Genetics, 2007

[Dystrophic epidermolysis bullosa].

Gol'dshteĭn LM et al.

Vestnik Dermatologii I Venerologii, 1976

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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."