Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G174Splc
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COL7A1

NM_000094.4:p.G174Splc

Associated Papers

Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis.

Feng X et al.

Molecular Syndromology, 2026

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Yu Y et al.

Acta Dermato-venereologica, 2021

De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa.

Woodley DT et al.

The Journal of Investigative Dermatology, 2014

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

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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."