Variant ID: 1-55529225-C-CA

NM_174936.3(PCSK9):c.2048dup;(p.H683Qfs*28)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: PCSK9: 2048dupA; H683fs
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
View BVdb publication page