Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2168R
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COL7A1

NM_000094.4:p.G2168R

Associated Papers

Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa.

Berthault C et al.

The Journal of Investigative Dermatology, 2024

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.

Turczynski S et al.

The Journal of Investigative Dermatology, 2016

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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."