Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2046S
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COL7A1

NM_000094.4:p.G2046S

Associated Papers

A novel pathogenic mutation in the COL7A1 gene resulting in mild autosomal dominant bullous dermolysis of the newborn.

Lor M et al.

Pediatric Dermatology, 2020

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

Shi BJ et al.

International Journal of Dermatology, 2015

[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."