Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G347R
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MVK

NM_000431.4:p.G347R

Associated Papers

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.

Yang Y et al.

The British Journal of Dermatology, 2026

Porokeratosis ptychotropica: Case reports and literature review.

Jin Y et al.

Annales De Dermatologie Et De Venereologie, 2025

National Rapid Genome Sequencing in Neonatal Intensive Care.

Marom D et al.

Jama Network Open, 2024

The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.

Çağlayan Ş et al.

Clinical Rheumatology, 2023

Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China.

Mei Q et al.

Clinical, Cosmetic and Investigational Dermatology, 2023

Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report.

Xu HJ et al.

World Journal of Clinical Cases, 2022

Novel mutation in MVK gene for co-occurrence of disseminated superficial actinic porokeratosis with porokeratosis ptychotropica.

Peng JM et al.

The Journal of Dermatology, 2021

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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."