Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.R32*
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PMVK

NM_006556.4:p.R32*

Associated Papers

A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.

Jairaman A et al.

Clinical Genetics, 2024

A Novel PMVK Variant Associated with Familial Porokeratosis.

Zhang W et al.

Human Heredity, 2023

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."