Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.K48R
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PMVK

NM_006556.4:p.K48R

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

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.

Song NJ et al.

Clinical and Experimental Dermatology, 2017

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."