Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E251K
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MEFV

NM_000243.3:p.E251K

Associated Papers

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

Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.

Schmidt J et al.

Plos One, 2022

Evaluation of the effects of miRNAs in familial Mediterranean fever.

Hortu HO et al.

Clinical Rheumatology, 2019

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

Kilinc M et al.

Rheumatology International, 2016

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Portincasa P et al.

European Journal of Clinical Investigation, 2013

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

Tchernitchko D et al.

Clinical Chemistry, 2004

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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."