Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S141I
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MEFV

NM_000243.3:p.S141I

Associated Papers

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R et al.

Orphanet Journal of Rare Diseases, 2017

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

Fujikura K

Molecular Genetics & Genomic Medicine, 2015

Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.

Ozen S et al.

Annals of the Rheumatic Diseases, 2014

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

Lainka E et al.

European Journal of Pediatrics, 2012

Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease.

Simsek I et al.

Clinical Rheumatology, 2011

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."