Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S702C
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MEFV

NM_000243.3:p.S702C

Associated Papers

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 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

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Booty MG et al.

Arthritis and Rheumatism, 2009

The population genetics of familial mediterranean fever: a meta-analysis study.

Papadopoulos VP et al.

Annals of Human Genetics, 2008

Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of 'intermediate risk'.

Fragouli E et al.

Clinical Genetics, 2008

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."