Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.I56V
Back to variants list

MVK

NM_000431.4:p.I56V

Associated Papers

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

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

Tanaka T et al.

Modern Rheumatology, 2019

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M et al.

Annals of the Rheumatic Diseases, 2016

In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.

Browne C et al.

Annals of Human Genetics, 2015

26420133 (PubMed )
Supplement: supplement_1.zip › Supplementary_Table_S1.xlsx › Sheet1
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."