Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2034A
Back to variants list

COL7A1

NM_000094.4:p.G2034A

Associated Papers

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.

Tartaglia G et al.

Embo Molecular Medicine, 2024

38462666 (PubMed )
Supplement: 44321_2024_48_MOESM1_ESM.pdf

Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo.

Cao Q et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2022

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.

Saeidian AH et al.

Clinical and Experimental Dermatology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."