Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.I641F
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MEFV

NM_000243.3:p.I641F

Associated Papers

Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

Elhani I et al.

Rmd Open, 2024

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Sözeri B et al.

The Turkish Journal of Pediatrics, 2024

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

Balta B et al.

Molecular Biology Reports, 2020

The Influence of Concomitant Disorders on Disease Severity of Familial Mediterranean Fever in Children.

Kişla Ekinci RM et al.

Archives of Rheumatology, 2018

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

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

Oztuzcu S et al.

Molecular Biology Reports, 2014

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

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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."