APP c.965G>C ;(p.G322A)

Variant ID: 21-27372398-C-G

NM_000484.3(APP):c.965G>C;(p.G322A)

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: G322A
PubMed Link: 36217304
Variant Present in the following documents:
  • Main text
  • CNS-29-122.pdf
View BVdb publication page



Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Plos One
Cruchaga, Carlos C; Haller, Gabe G; Chakraverty, Sumitra S; Mayo, Kevin K; Vallania, Francesco L M FL; Mitra, Robi D RD; Faber, Kelley K; Williamson, Jennifer J; Bird, Tom T; Diaz-Arrastia, Ramon R; Foroud, Tatiana M TM; Boeve, Bradley F BF; Graff-Radford, Neill R NR; St Jean, Pamela P; Lawson, Michael M; Ehm, Margaret G MG; Mayeux, Richard R; Goate, Alison M AM; ,
Publication Date: 2012

Variant appearance in text: APP: G322A
PubMed Link: 22312439
Variant Present in the following documents:
  • Main text
  • pone.0031039.pdf
View BVdb publication page