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APP c.1748A>G ;(p.E583G)
Variant ID: 21-27284214-T-C
NM_000484.3(
APP
):c.1748A>G;(p.E583G)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.
Cns Neuroscience & Therapeutics
Xiao, Xuewen X; Liu, Hui H; Zhou, Lu L; Liu, Xixi X; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Hao, Xiaoli X; Liu, Yingzi Y; Zhang, Weiwei W; Zhou, Yafang Y; Wang, Junling J; Li, Jinchen J; Jiao, Bin B; Shen, Lu L; Liao, Xinxin X
Publication Date: 2022-10-10
Variant appearance in text: APP: E583G
PubMed Link:
36217304
Variant Present in the following documents:
Main text
CNS-29-122.pdf
View BVdb publication page
Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
Molecular Genetics & Genomic Medicine
Chang, Ya-Sian YS; Lin, Chien-Yu CY; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG; Kuo, Haung-Tsung HT
Publication Date: 2019-12
Variant appearance in text: APP: E583G; rs778495527
PubMed Link:
31595719
Variant Present in the following documents:
Main text
MGG3-7-e996.pdf
View BVdb publication page