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Variant ID: 1-55527219-C-T
NM_174936.3(
PCSK9
):c.1853C>T;(p.P618L)
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:
Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.
Clinical And Translational Medicine
Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X
Publication Date: 2022-03
Variant appearance in text: PCSK9: 1853C>T
PubMed Link:
35343078
Variant Present in the following documents:
CTM2-12-e773-s001.pdf
View BVdb publication page