Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.Q2170*
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COL7A1

NM_000094.4:p.Q2170*

Associated Papers

Gene editing for collagen disorders: current advances and future perspectives.

Kocsy K et al.

Gene Therapy, 2025

Enhanced HDR-mediated correction of heterozygous COL7A1 mutations for recessive dystrophic epidermolysis bullosa.

Hunt JMT et al.

Molecular Therapy. Nucleic Acids, 2025

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

Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa.

Vincent C et al.

Stem Cell Research, 2023

High-efficiency RNA-based reprogramming of human primary fibroblasts.

Kogut I et al.

Nature Communications, 2018

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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

Natural gene therapy in dystrophic epidermolysis bullosa.

van den Akker PC et al.

Archives of Dermatology, 2012

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

van den Akker PC et al.

Journal of Dermatological Science, 2009

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N et al.

Experimental Dermatology, 2008

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

Kern JS et al.

The Journal of Investigative Dermatology, 2006

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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."