Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.V722M
Back to variants list

MEFV

NM_000243.3:p.V722M

Associated Papers

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Giat E et al.

Seminars in Arthritis and Rheumatism, 2025

Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.

Muhsinoglu O et al.

Ophthalmic Genetics, 2024

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

Tezcan ME et al.

Rheumatology International, 2023

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Neurological Face of Familial Mediterranean Fever.

Bektaş PC et al.

Turkish Archives of Pediatrics, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Sarı A et al.

Turkish Journal of Medical Sciences, 2021

Prevalence of Familial Mediterranean Fever in Children with Cryptogenic Cirrhosis.

Varol Fİ et al.

Journal of Tropical Pediatrics, 2021

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan A et al.

Turkish Journal of Medical Sciences, 2020

The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Zhong L et al.

Pediatric Rheumatology Online Journal, 2020

32398039 (PubMed )
Supplement: 12969_2020_427_MOESM3_ESM.xlsx › Healthy_controls

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

Balta B et al.

Molecular Biology Reports, 2020

Long-term follow-up of paediatric MEFV carriers.

Makay B et al.

Clinical Rheumatology, 2018

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

Battal F et al.

Balkan Journal of Medical Genetics : Bjmg, 2016

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

Fujikura K

Molecular Genetics & Genomic Medicine, 2015

Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.

Oztuzcu S et al.

Molecular Biology Reports, 2014

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system.

Zamani AG et al.

Genetics and Molecular Research : Gmr, 2013

Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.

Yesilada E et al.

Gene, 2012

Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease.

Ayesh S et al.

Scandinavian Journal of Rheumatology, 0

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

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."