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APP c.2059A>C ;(p.K687Q)
Variant ID: 21-27269890-T-G
NM_000484.3(
APP
):c.2059A>C;(p.K687Q)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.
Frontiers In Neurology
Liang, Zhihou Z; Wu, Yan Y; Li, Chuanzhou C; Liu, Zhijun Z
Publication Date: 2023
Variant appearance in text: APP: K687Q
PubMed Link:
37051054
Variant Present in the following documents:
Main text
fneur-14-1119326.pdf
View BVdb publication page
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Brain : A Journal Of Neurology
Wu, Chujun C; Wang, Mengwen M; Wang, Xingao X; Li, Wei W; Li, Shaowu S; Chen, Bin B; Niu, Songtao S; Tai, Hongfei H; Pan, Hua H; Zhang, Zaiqiang Z
Publication Date: 2022-11-16
Variant appearance in text: APP: 2059A>C; K687Q
PubMed Link:
36380532
Variant Present in the following documents:
Main text
awac426.pdf
View BVdb publication page
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Frontiers In Aging Neuroscience
Liu, Yingzi Y; Xiao, Xuewen X; Liu, Hui H; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Liu, Xixi X; Bi, Xiang-Yun XY; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Zhang, Sizhe S; Hao, Xiaoli X; Zhang, Weiwei W; Wang, Junling J; Jiao, Bin B; Shen, Lu L
Publication Date: 2022
Variant appearance in text: APP: K687Q
PubMed Link:
36313020
Variant Present in the following documents:
Main text
fnagi-14-1013295.pdf
View BVdb publication page
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: 2059A>C; Lys687Gln
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: K687Q
PubMed Link:
32235595
Variant Present in the following documents:
Main text
ijms-21-02381.pdf
View BVdb publication page