PCSK9 c.244_245delinsTA ;(p.L82*)

Variant ID: 1-55509552-CT-TA

NM_174936.3(PCSK9):c.244_245delinsTA;(p.L82*)

This variant was identified in 4 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: PCSK9: Leu82X
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
Zhang, Pei-Ying PY
Publication Date: 2017-03

Variant appearance in text: PCSK9: L82X
PubMed Link: 28450903
Variant Present in the following documents:
  • Main text
  • etm-13-03-0810.pdf
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: Leu82X
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
Parnell, Laurence D LD; Lee, Yu-Chi YC; Lai, Chao-Qiang CQ
Publication Date: 2010-04

Variant appearance in text: PCSK9: L82X
PubMed Link: 20154611
Variant Present in the following documents:
  • Main text
View BVdb publication page