PMID: 23951290

PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

PloS one

YG Saavedra, J Zhang, NG Seidah

2013

5 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55512252-G-C	PCSK9	c.456G>C	p.Gln152His	Missense	3/12	-
3-184101353-CT-TA	CHRD	c.1363_1364delCTinsTA	p.Leu455*	Nonsense	12/23	-
1-55512250-CA-TG	PCSK9	c.454_455delCAinsTG	p.Gln152Trp	Missense	3/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
1-55512252-G-T	PCSK9	c.456G>T	p.Gln152His	Missense	3/12	-