Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S339F
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MEFV

NM_000243.3:p.S339F

Associated Papers

Familial Mediterranean fever and MEFV gene variants in hidradenitis suppurativa: A systematic review.

Aw K et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Genetic variants in patients with recurrent pericarditis.

Imazio M et al.

Journal of Cardiovascular Medicine (hagerstown, Md.), 2024

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever.

Gullu UU et al.

Cureus, 2023

Importance of hematological markers in familial Mediterranean fever in terms of disease severity and amyloidosis.

Tezcan ME et al.

Rheumatology International, 2023

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Monocyte-derived dendritic cells display a highly activated phenotype and altered function in patients with familial Mediterranean fever.

Funk T et al.

Clinical and Experimental Immunology, 2020

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Balta B et al.

Molecular Biology Reports, 2020

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Vural S et al.

The British Journal of Dermatology, 2019

Familial Mediterranean fever: breaking all the (genetic) rules.

Stella A et al.

Rheumatology (oxford, England), 2019

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

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 in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population.

Lainka E et al.

European Journal of Pediatrics, 2012

Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?

Berdeli A et al.

Genetic Testing and Molecular Biomarkers, 0

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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."