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PCSK9 c.208G>A ;(p.D70N)
Variant ID: 1-55509516-G-A
NM_174936.3(
PCSK9
):c.208G>A;(p.D70N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
Aggregates, crystals, gels, and amyloids: intracellular and extracellular phenotypes at the crossroads of immunoglobulin physicochemical property and cell physiology.
International Journal Of Cell Biology
Hasegawa, Haruki H
Publication Date: 2013
Variant appearance in text: PCSK9: D70N
PubMed Link:
23533417
Variant Present in the following documents:
IJCB2013-604867.pdf
View BVdb publication page
Novel domain interaction regulates secretion of proprotein convertase subtilisin/kexin type 9 (PCSK9) protein.
The Journal Of Biological Chemistry
Du, Fen F; Hui, Yvonne Y; Zhang, Michelle M; Linton, MacRae F MF; Fazio, Sergio S; Fan, Daping D
Publication Date: 2011-12-16
Variant appearance in text: PCSK9: D70N
PubMed Link:
22027821
Variant Present in the following documents:
Main text
View BVdb publication page