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APP c.313T>A ;(p.C105S)
Variant ID: 21-27462301-A-T
NM_000484.3(
APP
):c.313T>A;(p.C105S)
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:
Calpain activation promotes BACE1 expression, amyloid precursor protein processing, and amyloid plaque formation in a transgenic mouse model of Alzheimer disease.
The Journal Of Biological Chemistry
Liang, Bin B; Duan, Bao-Yu BY; Zhou, Xiu-Ping XP; Gong, Jia-Xin JX; Luo, Zhen-Ge ZG
Publication Date: 2010-09-03
Variant appearance in text: APP: C105S
PubMed Link:
20595388
Variant Present in the following documents:
Main text
View BVdb publication page