Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G555E
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COL7A1

NM_000094.4:p.G555E

Associated Papers

Dystrophic epidermolysis bullosa: a review.

Shinkuma S

Clinical, Cosmetic and Investigational Dermatology, 2015

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

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

Varki R et al.

Journal of Medical Genetics, 2007

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

Drera B et al.

Clinical Genetics, 2006

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

Posteraro P et al.

Biochemical and Biophysical Research Communications, 2005

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D et al.

Journal of Human Genetics, 2005

Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.

Murata T et al.

Archives of Dermatological Research, 2004

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

Gardella R et al.

The Journal of Investigative Dermatology, 2002

Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Barøy T et al.

Plos One, 0

27685995 (PubMed )
Supplement: pone.0163859.s005.xlsx › OS111
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