Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.E2059G
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COL7A1

NM_000094.4:p.E2059G

Associated Papers

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.

So JY et al.

Orphanet Journal of Rare Diseases, 2022

QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study.

Bornert O et al.

The Journal of Investigative Dermatology, 2021

Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa.

Eichstadt S et al.

Jci Insight, 2019

Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa.

Cutlar L et al.

Experimental Dermatology, 2014

Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa.

Tolar J et al.

The Journal of Investigative Dermatology, 2011

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

Kern JS et al.

The British Journal of Dermatology, 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."