PSEN1 c.496_498delinsGAG ;(p.L166E)

Variant ID: 14-73653576-CTT-GAG

NM_000021.3(PSEN1):c.496_498delinsGAG;(p.L166E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Moehlmann, Tobias T; Winkler, Edith E; Xia, Xuefeng X; Edbauer, Dieter D; Murrell, Jill J; Capell, Anja A; Kaether, Christoph C; Zheng, Hui H; Ghetti, Bernardino B; Haass, Christian C; Steiner, Harald H
Publication Date: 2002-06-11

Variant appearance in text: PS1: L166E
PubMed Link: 12048239
Variant Present in the following documents:
  • Main text
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