Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P780T
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MEFV

NM_000243.3:p.P780T

Associated Papers

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

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

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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."