Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.I729V
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MEFV

NM_000243.3:p.I729V

Associated Papers

Idiopathic multicentric Castleman disease with novel heterozygous Ile729Met mutation in exon 10 of familial Mediterranean fever gene.

Endo Y et al.

Rheumatology (oxford, England), 2021

Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: a case-control study.

He C et al.

Immunology Letters, 2014

The possession of exon 2 or exon 3 variants in the MEFV gene promotes inflammasome activation in Japanese patients with familial Mediterranean fever with a heterozygous exon 10 mutation.

Endo Y et al.

Clinical and Experimental Rheumatology, 0

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