Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.Q385*
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EXPH5

NM_015065.3:p.Q385*

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

Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.

Koren T et al.

Experimental Dermatology, 2022

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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."