PMID: 23308045

Proprotein convertase subtilisin/kexin type 9 deficiency reduces melanoma metastasis in liver.

Neoplasia (New York, N.Y.)
X Sun, R Essalmani, R Day, AM Khatib, NG Seidah, A Prat
2012-12

3 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -