ABCG8 c.499_501del ;(p.L167del)

Variant ID: 2-44078899-CTTG-C

NM_022437.2(ABCG8):c.499_501del;(p.L167del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06

Variant appearance in text: ABCG8: Leu167del
PubMed Link: 34447653
Variant Present in the following documents:
  • bjmg-24-005.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: ABCG8: Leu167del
PubMed Link: 33343620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.

International Journal Of Molecular Sciences
Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C
Publication Date: 2018-11-01

Variant appearance in text: ABCG8: Leu167del
PubMed Link: 30388787
Variant Present in the following documents:
  • ijms-19-03426.pdf
View BVdb publication page