LDLR c.1879del ;(p.A627Pfs*38)

Variant ID: 19-11230801-AG-A

NM_000527.4(LDLR):c.1879del;(p.A627Pfs*38)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: LDLR: Ala627Profs*38
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia-Brief Report.

Arteriosclerosis, Thrombosis, And Vascular Biology
Reeskamp, Laurens F LF; Millar, John S JS; Wu, Liya L; Jansen, Hans H; van Harskamp, Dewi D; Schierbeek, Henk H; Gipe, Daniel A DA; Rader, Daniel J DJ; Dallinga-Thie, Geesje M GM; Hovingh, G Kees GK; Cuchel, Marina M
Publication Date: 2021-05-05

Variant appearance in text: LDLR: Ala627Profs*38
PubMed Link: 33691480
Variant Present in the following documents:
  • atv-41-1753.pdf
View BVdb publication page



Angiopoietin-like proteins inhibitors: New horizons in the treatment of atherogenic dyslipidemia and familial hypercholesterolemia.

Cardiology Journal
Surma, Stanisław S; Romańczyk, Monika M; Filipiak, Krzysztof J KJ
Publication Date: 2021-01-20

Variant appearance in text: LDLR: Ala627Profs*38
PubMed Link: 33470417
Variant Present in the following documents:
  • cardj-30-1-131.pdf
View BVdb publication page