Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.C562R
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ITGA6

NM_000210.4:p.C562R

Associated Papers

Epidermolysis bullosa with pyloric atresia.

Chung HJ et al.

Dermatologic Clinics, 2010

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

Nakano A et al.

Pediatric Research, 2001

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

Ashton GH et al.

The British Journal of Dermatology, 2001

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Pulkkinen L et al.

American Journal of Human Genetics, 1998

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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."