Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.A166insFs
Back to variants list

COL18A1

NM_001379500.1:p.A166insFs

Associated Papers

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

Dang N et al.

Experimental Dermatology, 2008

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Varki R et al.

Journal of Medical Genetics, 2007

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.

Posteraro P et al.

Biochemical and Biophysical Research Communications, 2005

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

Gardella R et al.

The Journal of Investigative Dermatology, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."