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APOB c.13569G>A ;(p.L4523=)
Variant ID: 2-21224725-C-T
NM_000384.2(
APOB
):c.13569G>A;(p.L4523=)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.
Atherosclerosis
Nikkola, Elina E; Ko, Arthur A; Alvarez, Marcus M; Cantor, Rita M RM; Garske, Kristina K; Kim, Elliot E; Gee, Stephanie S; Rodriguez, Alejandra A; Muxel, Reinhard R; Matikainen, Niina N; Söderlund, Sanni S; Motazacker, Mahdi M MM; Borén, Jan J; Lamina, Claudia C; Kronenberg, Florian F; Schneider, Wolfgang J WJ; Palotie, Aarno A; Laakso, Markku M; Taskinen, Marja-Riitta MR; Pajukanta, Päivi P
Publication Date: 2017-09
Variant appearance in text: APOB: 13569G>A
PubMed Link:
28772107
Variant Present in the following documents:
Main text
View BVdb publication page