Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G144V
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MVK

NM_000431.4:p.G144V

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

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Kılıç Könte E et al.

The Turkish Journal of Pediatrics, 2025

Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.

Yıldız F et al.

Archives of Rheumatology, 2023

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Boursier G et al.

Journal of Clinical Medicine, 2021

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Karacan İ et al.

Rheumatology International, 2019

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Tanaka T et al.

Modern Rheumatology, 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."