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Bibliome.ai PCSK9 c.742_743delinsGC ;(p.R248A)
Variant ID: 1-55052734-CG-GC
NM_174936.3(
PCSK9
):c.742_743delinsGC;(p.R248A)
This variant was identified in 1 publication
View hg19 version.
Variant-Specific Resource Links:
gnomAD v3
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.
The Journal Of Biological Chemistry
Benjannet, Suzanne S; Saavedra, Yascara Grisel Luna YG; Hamelin, Josée J; Asselin, Marie-Claude MC; Essalmani, Rachid R; Pasquato, Antonella A; Lemaire, Peter P; Duke, Gerald G; Miao, Bowman B; Duclos, Franck F; Parker, Rex R; Mayer, Gaétan G; Seidah, Nabil G NG
Publication Date: 2010-12-24
Variant appearance in text: PCSK9: R248A
PubMed Link:
20937814
Variant Present in the following documents:
Main text
View BVdb publication page