Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2034V
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COL7A1

NM_000094.4:p.G2034V

Associated Papers

A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.

Jin L et al.

Journal of Cosmetic Dermatology, 2020

Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.

Masunaga T et al.

The Journal of Dermatology, 2018

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

Liu YH et al.

Gene, 2013

[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."