Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E148D
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MEFV

NM_000243.3:p.E148D

Associated Papers

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S4

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Balta B et al.

Molecular Biology Reports, 2020

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk.

Ebrahimi-Fakhari D et al.

Scandinavian Journal of Rheumatology, 2013

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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."