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LRP8 c.89C>G ;(p.A30G)
Variant ID: 1-53793496-G-C
NM_004631.4(
LRP8
):c.89C>G;(p.A30G)
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:
A novel molecular diagnostic marker for familial and early-onset coronary artery disease and myocardial infarction in the LRP8 gene.
Circulation. Cardiovascular Genetics
Shen, Gong-Qing GQ; Girelli, Domenico D; Li, Lin L; Rao, Shaoqi S; Archacki, Stephen S; Olivieri, Oliviero O; Martinelli, Nicola N; Park, Jeong Euy JE; Chen, Qiuyun Q; Topol, Eric J EJ; Wang, Qing K QK
Publication Date: 2014-08
Variant appearance in text: LRP8: 89C>G
PubMed Link:
24867879
Variant Present in the following documents:
Main text
View BVdb publication page