PCSK9 c.413C>G ;(p.P138R)

Variant ID: 1-55512209-C-G

NM_174936.3(PCSK9):c.413C>G;(p.P138R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2022

Variant appearance in text: PCSK9: 413C>G
PubMed Link: 34875256
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

Practical Laboratory Medicine
Tada, Hayato H; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K
Publication Date: 2015-04-01

Variant appearance in text: PCSK9: 413C>G
PubMed Link: 28932795
Variant Present in the following documents:
  • Main text
View BVdb publication page