MEFV c.250G>C ;(p.E84Q)

Variant ID: 16-3306338-C-G

NM_000243.2(MEFV):c.250G>C;(p.E84Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: MEFV: Glu84Gln
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page