Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.I720M
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MEFV

NM_000243.3:p.I720M

Associated Papers

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

Occurrence of familial Mediterranean fever in haemophilia patients.

Kirkiz S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

Neurological Face of Familial Mediterranean Fever.

Bektaş PC et al.

Turkish Archives of Pediatrics, 2022

Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

Missoum H et al.

The Pan African Medical Journal, 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

Sacroiliitis associated with familial Mediterranean fever in childhood: a case series and review of literature.

Yıldırım DG et al.

The Turkish Journal of Pediatrics, 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

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

The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.

Weinert C et al.

Journal of Molecular Biology, 2009

Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

Goulielmos GN et al.

Biochemical and Biophysical Research Communications, 2006

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

Medlej-Hashim M et al.

European Journal of Medical Genetics, 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

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