Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.R137Q
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COL7A1

NM_000094.4:p.R137Q

Associated Papers

What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause.

Yang R et al.

The Journal of Dermatology, 2020

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.

Guerra L et al.

Acta Dermato-venereologica, 2018

[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."