Variant ID: 1-55521800-GT-AG

NM_174936.3(PCSK9):c.934_935delinsAG;(p.V312S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology
Chen, Peipei P; Chen, Xi X; Zhang, Shuyang S
Publication Date: 2019

Variant appearance in text: PCSK9: V312S
PubMed Link: 30949068
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26

Variant appearance in text: PCSK9: V312S
PubMed Link: 26608663
Variant Present in the following documents:
  • Main text
View BVdb publication page