Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E225K
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MEFV

NM_000243.3:p.E225K

Associated Papers

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.

Choi SR et al.

Journal of Rheumatic Diseases, 2025

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2

Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.

Yasunami M et al.

Plos One, 2015

Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.

Migita K et al.

Medicine, 2014

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

Papadopoulos VP et al.

Annals of Human Genetics, 2008

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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."