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.




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