Variant ID: 1-55509692-C-A

NM_174936.3(PCSK9):c.384C>A;(p.G128=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O
Publication Date: 2005-02-08

Variant appearance in text: PCSK9: G128G
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page