Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.R277G
Back to variants list

MVK

NM_000431.4:p.R277G

Associated Papers

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

Boursier G et al.

Journal of Clinical Medicine, 2021

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

Tanaka T et al.

Modern Rheumatology, 2019

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Peciuliene S et al.

Pediatric Rheumatology Online Journal, 2016

Comment to Santos et al., "hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype".

Santos Rde L et al.

Gene, 2015

Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.

Santos JA et al.

Gene, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."