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Article

Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation.

European journal of medical genetics - 1 Jun 2019

Grossman Chagai, Kassel Yonatan, Livneh Avi, Ben-Zvi Ilan

Abstract excerpt

The clinical presentation of familial Mediterranean fever (FMF) is remarkably variable, ranging from a quiescent to a severe and disabling disease. The M694V mutation is one of approximately 300 published genetic variations in the FMF gene. While some studies have reported a more severe phenotype for the homozygous M694V mutation, studies dedicated solely to featuring the phenotype of homozygous M694V genotype...

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Source

Identifiers

PMID: 30171907
DOI: 10.1016/j.ejmg.2018.08.013

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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