Varaico: Literature-Extracted Genetic Variants

Gene:PERP
Variant:p.S46*
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PERP

NM_022121.5:p.S46*

Associated Papers

Verruciform Xanthoma, Fungal Infection and Cutaneous Squamous Cell Carcinoma in a Patient With Homozygous Mutation in PERP (c.137C>A, p.S46*).

Hu B et al.

The Journal of Dermatology, 2026

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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."