PSEN1 c.67_68delinsGC ;(p.S23A)

Variant ID: 14-73614794-AG-GC

NM_000021.3(PSEN1):c.67_68delinsGC;(p.S23A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Discovery of a dual-action small molecule that improves neuropathological features of Alzheimer's disease mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Park, Min Hee MH; Park, Kang Ho KH; Choi, Byung Jo BJ; Han, Wan Hui WH; Yoon, Hee Ji HJ; Jung, Hye Yoon HY; Lee, Jihoon J; Song, Im-Sook IS; Lim, Dong Yu DY; Choi, Min-Koo MK; Lee, Yang-Ha YH; Park, Cheol-Min CM; Wang, Ming M; Jo, Jihoon J; Kim, Hee-Jin HJ; Kim, Seung Hyun SH; Schuchman, Edward H EH; Jin, Hee Kyung HK; Bae, Jae-Sung JS
Publication Date: 2022-01-18

Variant appearance in text: PS1: S23A
PubMed Link: 35027452
Variant Present in the following documents:
  • pnas.202115082.pdf
View BVdb publication page



Systems analysis of small signaling modules relevant to eight human diseases.

Annals Of Biomedical Engineering
Benedict, Kelly F KF; Mac Gabhann, Feilim F; Amanfu, Robert K RK; Chavali, Arvind K AK; Gianchandani, Erwin P EP; Glaw, Lydia S LS; Oberhardt, Matthew A MA; Thorne, Bryan C BC; Yang, Jason H JH; Papin, Jason A JA; Peirce, Shayn M SM; Saucerman, Jeffrey J JJ; Skalak, Thomas C TC
Publication Date: 2011-02

Variant appearance in text: PS1: S23A
PubMed Link: 21132372
Variant Present in the following documents:
  • 10439_2010_208_MOESM1_ESM.pdf
View BVdb publication page