Varaico: Literature-Extracted Genetic Variants

Gene:MVD
Variant:p.I371del1
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MVD

NM_002461.3:p.I371del1

Associated Papers

Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.

He Y et al.

Frontiers in Medicine, 2026

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.

Wang X et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants.

Tao L et al.

Skin Health and Disease, 2022

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.

Li M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Qian W et al.

Indian Journal of Dermatology, 0

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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."