Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P588P
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MEFV

NM_000243.3:p.P588P

Associated Papers

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

Schmidt J et al.

Plos One, 2022

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

Villani AC et al.

Plos One, 2009

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Cazeneuve C et al.

American Journal of Human Genetics, 1999

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever].

Cazeneuve C et al.

Annales De Genetique, 1999

Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?

Berdeli A et al.

Genetic Testing and Molecular Biomarkers, 0

Blau syndrome with a rare mutation in exon 9 of NOD2 gene.

Velickovic J et al.

Autoimmunity, 0

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