Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.H304Y
Back to variants list

MVK

NM_000431.4:p.H304Y

Associated Papers

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

Suspitsin EN et al.

Clinical Genetics, 2020

Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.

Yao Q et al.

Autoimmunity, 2019

NLRP12 autoinflammatory disease: a Chinese case series and literature review.

Shen M et al.

Clinical Rheumatology, 2017

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

Cantarini L et al.

Clinical Rheumatology, 2015

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C et al.

Pediatric Rheumatology Online Journal, 2015

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 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."