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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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