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Variant ID: 1-55521821-CG-GA
NM_174936.3(
PCSK9
):c.955_956delinsGA;(p.R319E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Frontiers In Physiology
Chen, Peipei P; Chen, Xi X; Zhang, Shuyang S
Publication Date: 2019
Variant appearance in text: PCSK9: R319E
PubMed Link:
30949068
Variant Present in the following documents:
Main text
View BVdb publication page
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26
Variant appearance in text: PCSK9: R319E
PubMed Link:
26608663
Variant Present in the following documents:
Main text
View BVdb publication page