CD2 c.137C>T ;(p.P46L)

Variant ID: 1-117297328-C-T

NM_001767.3(CD2):c.137C>T;(p.P46L)

This variant was identified in 2 publications

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: CD2: P46L
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



Caution Should be Used in the Recognition of Adult-Onset Autoinflammatory Disorders: Facts or Fiction?

Frontiers In Immunology
Cantarini, Luca L; Lucherini, Orso Maria OM; Rigante, Donato D
Publication Date: 2013

Variant appearance in text: CD2: P46L
PubMed Link: 23630527
Variant Present in the following documents:
  • fimmu-04-00096.pdf
View BVdb publication page