Variant ID: 19-11233876-G-T

NM_000527.4(LDLR):c.2167G>T;(p.E723*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
Garg, Abhimanyu A; Fazio, Sergio S; Duell, P Barton PB; Baass, Alexis A; Udata, Chandrasekhar C; Joh, Tenshang T; Riel, Tom T; Sirota, Marina M; Dettling, Danielle D; Liang, Hong H; Garzone, Pamela D PD; Gumbiner, Barry B; Wan, Hong H
Publication Date: 2020-01-01

Variant appearance in text: LDLR: 2167G>T; E723*
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: LDLR: 2167G>T; Glu723*
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page