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APP c.2171A>T ;(p.K724M)
Variant ID: 21-27264074-T-A
NM_000484.3(
APP
):c.2171A>T;(p.K724M)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10
Variant appearance in text: APP: 2171A>T; K724M
PubMed Link:
32767553
Variant Present in the following documents:
Main text
MGG3-8-e1443.pdf
View BVdb publication page
The Genetics of Alzheimer's Disease in the Chinese Population.
International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30
Variant appearance in text: APP: K724M
PubMed Link:
32235595
Variant Present in the following documents:
Main text
ijms-21-02381.pdf
View BVdb publication page
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04
Variant appearance in text: APP: K724M
PubMed Link:
31011484
Variant Present in the following documents:
Main text
ad-10-2-383.pdf
View BVdb publication page
Nanopore-Based Target Sequence Detection.
Plos One
Morin, Trevor J TJ; Shropshire, Tyler T; Liu, Xu X; Briggs, Kyle K; Huynh, Cindy C; Tabard-Cossa, Vincent V; Wang, Hongyun H; Dunbar, William B WB
Publication Date: 2016
Variant appearance in text: APP: K724M
PubMed Link:
27149679
Variant Present in the following documents:
pone.0154426.pdf
View BVdb publication page