Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.S329R
Back to variants list

MVK

NM_000431.4:p.S329R

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

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R et al.

Orphanet Journal of Rare Diseases, 2017

Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.

Campanilho-Marques R et al.

Clinical Rheumatology, 2014

Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.

Korppi M et al.

Acta Paediatrica (oslo, Norway : 1992), 2011

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH et al.

Human Mutation, 2006

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.

Takada K et al.

Arthritis and Rheumatism, 2003

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."