Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.L1592delFs
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PLEC

NM_201384.3:p.L1592delFs

Associated Papers

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

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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."