Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.D510N
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MEFV

NM_000243.3:p.D510N

Associated Papers

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

Prediction of More Severe MEFV Gene Mutations in Childhood.

Güneş-Yılmaz S et al.

Turkish Archives of Pediatrics, 2021

Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study.

Mortensen SB et al.

Scandinavian Journal of Rheumatology, 2020

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

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

Balta B et al.

Molecular Biology Reports, 2020

[Periodic fever syndromes].

Helweg-Larsen J et al.

Ugeskrift for Laeger, 2018

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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."