PMID: 33643062

New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Frontiers in physiology

Ying, Qidi Q, Chan, Dick C DC, Watts, Gerald F GF

2021

6 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55509618-C-T	PCSK9	c.310C>T	p.R104C	Missense	2/12	-
1-55505647-G-T	PCSK9	c.137G>T	p.R46L	Missense	1/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.D374Y	Missense	7/12	-
1-55509689-T-G	PCSK9	c.381T>G	p.S127R	Missense	2/12	-
1-55509689-T-A	PCSK9	c.381T>A	p.S127R	Missense	2/12	-
1-55509687-A-C	PCSK9	c.379A>C	p.S127R	Missense	2/12	-