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NPAT c.1241A>G ;(p.E414G)
Variant ID: 11-108044470-T-C
NM_002519.2(
NPAT
):c.1241A>G;(p.E414G)
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:
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: E14: E414G
PubMed Link:
26608663
Variant Present in the following documents:
Main text
srep17272.pdf
View BVdb publication page