Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S179N
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MEFV

NM_000243.3:p.S179N

Associated Papers

Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.

Reygaerts T et al.

Rheumatology (oxford, England), 2024

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy.

Aita A et al.

Plos One, 2018

Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Fujikura K

Molecular Genetics & Genomic Medicine, 2015

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Portincasa P et al.

European Journal of Clinical Investigation, 2013

Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia.

Cornelius N et al.

Rheumatology International, 2011

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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."