Variant ID: 1-55512310-C-G

NM_174936.3(PCSK9):c.514C>G;(p.Q172E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Frontiers In Genetics
Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M
Publication Date: 2021

Variant appearance in text: PCSK9: 514C>G
PubMed Link: 33732287
Variant Present in the following documents:
  • Main text
View BVdb publication page