Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.F466fs
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EXPH5

NM_015065.3:p.F466fs

Associated Papers

Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.

Rashidghamat E et al.

The British Journal of Dermatology, 2016

Recently Identified Forms of Epidermolysis Bullosa.

McGrath JA

Annals of Dermatology, 2015

Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.

Pigors M et al.

The Journal of Investigative Dermatology, 2014

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.

Liu L et al.

The British Journal of Dermatology, 2014

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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."