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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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