PSEN1 c.857_858delinsAA ;(p.L286Q)

Variant ID: 14-73664826-TC-AA

NM_000021.3(PSEN1):c.857_858delinsAA;(p.L286Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kulic, L L; Walter, J J; Multhaup, G G; Teplow, D B DB; Baumeister, R R; Romig, H H; Capell, A A; Steiner, H H; Haass, C C
Publication Date: 2000-05-23

Variant appearance in text: PS1: L286Q
PubMed Link: 10811883
Variant Present in the following documents:
  • Main text
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