PCSK9 c.122T>A ;(p.L41Q)

Variant ID: 1-55505632-T-A

NM_174936.3(PCSK9):c.122T>A;(p.L41Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: PCSK9: 122T>A; Leu41Gln
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Applied pharmacogenomics in cardiovascular medicine.

Annual Review Of Medicine
Weeke, Peter P; Roden, Dan M DM
Publication Date: 2014

Variant appearance in text: PCSK9: L41Q
PubMed Link: 24111889
Variant Present in the following documents:
  • Main text
View BVdb publication page