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CALR c.178G>T ;(p.E60*)
Variant ID: 19-13050034-G-T
NM_004343.3(
CALR
):c.178G>T;(p.E60*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A comprehensive set of ER protein disulfide isomerase family members supports the biogenesis of pro-inflammatory interleukin 12 family cytokines.
The Journal Of Biological Chemistry
Mideksa, Yonatan G YG; Aschenbrenner, Isabel I; Fux, Anja A; Kaylani, Dinah D; Weiß, Caroline A M CAM; Nguyen, Tuan-Anh TA; Bach, Nina C NC; Lang, Kathrin K; Sieber, Stephan A SA; Feige, Matthias J MJ
Publication Date: 2022-11-03
Variant appearance in text: CALR: E60*
PubMed Link:
36336075
Variant Present in the following documents:
main.pdf
View BVdb publication page