Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R501R
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MEFV

NM_000243.3:p.R501R

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

The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Zhong L et al.

Pediatric Rheumatology Online Journal, 2020

32398039 (PubMed )
Supplement: 12969_2020_427_MOESM3_ESM.xlsx › Healthy_controls

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

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

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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."