Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2046V
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COL7A1

NM_000094.4:p.G2046V

Associated Papers

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

Shi BJ et al.

International Journal of Dermatology, 2015

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

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

van den Akker PC et al.

Journal of Medical Genetics, 2011

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N et al.

Experimental Dermatology, 2008

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.

Mallipeddi R et al.

The British Journal of 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."