Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2025S
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COL7A1

NM_000094.4:p.G2025S

Associated Papers

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.

Yenamandra VK et al.

Acta Dermato-venereologica, 2018

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

van den Akker PC et al.

Journal of Medical Genetics, 2011

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

Dang N et al.

Experimental Dermatology, 2008

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

Pfendner EG et al.

Prenatal Diagnosis, 2003

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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."