Variant ID: 1-55505712-CG-C

NM_174936.3(PCSK9):c.202del;(p.A68Pfs*15)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: N/A
PubMed Link: 34356856
Variant Present in the following documents:
View BVdb publication page



Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.

Journal Of Clinical Lipidology
Vilar-Gomez, Eduardo E; Gawrieh, Samer S; Liang, Tiebing T; McIntyre, Adam D AD; Hegele, Robert A RA; Chalasani, Naga N
Publication Date: 2021

Variant appearance in text: PCSK9: 202delG; A68fs
PubMed Link: 33454241
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: 202delG
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
Ferri, Nicola N
Publication Date: 2012

Variant appearance in text: PCSK9: 202delG
PubMed Link: 24278757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: PCSK9: A68PfsX15
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page