Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.S1306*
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EXPH5

NM_015065.3:p.S1306*

Associated Papers

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.

Grutters LA et al.

The British Journal of Dermatology, 2025

Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.

Diociaiuti A et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

Turcan I et al.

Jama Dermatology, 2016

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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."