Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.I640M
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MEFV

NM_000243.3:p.I640M

Associated Papers

Genotype-phenotype correlations and resistance to colchicine in a familial Mediterranean fever cohort in southwestern Spain.

Quiles CH et al.

European Journal of Internal Medicine, 2025

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 2024

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Leukopenia in familial Mediterranean fever: case series and literature review with special emphasis on pathogenesis.

Aslan D

Pediatric Hematology and Oncology, 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

An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.

Cañete JD et al.

Arthritis and Rheumatism, 2007

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

Efficacy and safety of anti-interleukin-1 in children with colchicine-resistant familial Mediterranean fever.

Erkilet HK et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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."