HR c.499_501del ;(p.L167del)

Variant ID: 8-21986183-CTAG-C

NM_005144.4(HR):c.499_501del;(p.L167del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Current causes of death in familial hypercholesterolemia.

Lipids In Health And Disease
Marco-Benedí, Victoria V; Bea, Ana M AM; Cenarro, Ana A; Jarauta, Estíbaliz E; Laclaustra, Martín M; Civeira, Fernando F
Publication Date: 2022-08-02

Variant appearance in text: HR: Leu167del
PubMed Link: 35918701
Variant Present in the following documents:
  • 12944_2022_Article_1671.pdf
View BVdb publication page



Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.

Nutrients
González-Lleó, Ana M AM; Sánchez-Hernández, Rosa María RM; Boronat, Mauro M; Wägner, Ana M AM
Publication Date: 2022-04-03

Variant appearance in text: HR: Leu167del
PubMed Link: 35406116
Variant Present in the following documents:
  • nutrients-14-01503.pdf
View BVdb publication page



Genetics of Hypercholesterolemia: Comparison Between Familial Hypercholesterolemia and Hypercholesterolemia Nonrelated to LDL Receptor.

Frontiers In Genetics
Jarauta, Estíbaliz E; Bea-Sanz, Ana Ma AM; Marco-Benedi, Victoria V; Lamiquiz-Moneo, Itziar I
Publication Date: 2020

Variant appearance in text: HR: Leu167del
PubMed Link: 33343620
Variant Present in the following documents:
  • Main text
  • fgene-11-554931.pdf
View BVdb publication page