PSEN1 c.1277_1278delinsAG ;(p.A426E)

Variant ID: 14-73685870-CC-AG

NM_000021.3(PSEN1):c.1277_1278delinsAG;(p.A426E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


CRISPR/Cas9-Correctable mutation-related molecular and physiological phenotypes in iPSC-derived Alzheimer's PSEN2 N141I neurons.

Acta Neuropathologica Communications
Ortiz-Virumbrales, Maitane M; Moreno, Cesar L CL; Kruglikov, Ilya I; Marazuela, Paula P; Sproul, Andrew A; Jacob, Samson S; Zimmer, Matthew M; Paull, Daniel D; Zhang, Bin B; Schadt, Eric E EE; Ehrlich, Michelle E ME; Tanzi, Rudolph E RE; Arancio, Ottavio O; Noggle, Scott S; Gandy, Sam S
Publication Date: 2017-10-27

Variant appearance in text: PS1: A426E
PubMed Link: 29078805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathological Hallmarks, Clinical Parallels, and Value for Drug Testing in Alzheimer's Disease of the APP[V717I] London Transgenic Mouse Model.

International Journal Of Alzheimer'S Disease
Tanghe, An A; Termont, Annelies A; Merchiers, Pascal P; Schilling, Stephan S; Demuth, Hans-Ulrich HU; Scrocchi, Louise L; Van Leuven, Fred F; Griffioen, Gerard G; Van Dooren, Tom T
Publication Date: 2010-09-02

Variant appearance in text: PS1: A426E
PubMed Link: 20862386
Variant Present in the following documents:
  • Main text
  • IJAD2010-417314.pdf
View BVdb publication page