PMID: 30463987

Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal of lipid research

AM Galvan, JS Chorba

2019-01

5 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55529215-C-A	PCSK9	c.2037C>A	p.Cys679*	Nonsense	12/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
1-55509585-CG-GC	PCSK9	c.277_278delCGinsGC	p.Arg93Ala	Missense	2/12	-
1-55509694-A-G	PCSK9	c.386A>G	p.Asp129Gly	Missense	2/12	-
1-55509689-T-A	PCSK9	c.381T>A	p.Ser127Arg	Missense	2/12	-