Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.R1303Q
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EXPH5

NM_015065.3:p.R1303Q

Associated Papers

Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Pânzaru MC et al.

Diagnostics (basel, Switzerland), 2022

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

Pigors M et al.

The Journal of Investigative 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."