Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.Q127*
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PMVK

NM_006556.4:p.Q127*

Associated Papers

The evolving genetic landscape of ILVEN: A comprehensive review.

Aghajani M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Atzmony L et al.

Pediatric Dermatology, 2022

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

Atzmony L et al.

Journal of the American Academy of Dermatology, 2020

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

Atzmony L et al.

Jama Dermatology, 2019

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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."