PSEN1 c.887_888delinsAC ;(p.V296D)

Variant ID: 14-73673112-TG-AC

NM_000021.3(PSEN1):c.887_888delinsAC;(p.V296D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Fukumori, Akio A; Fluhrer, Regina R; Steiner, Harald H; Haass, Christian C
Publication Date: 2010-06-09

Variant appearance in text: PS1: V296D
PubMed Link: 20534834
Variant Present in the following documents:
  • Main text
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