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PSEN1 c.1150_1151inv ;(p.G384P)
Variant ID: 14-73683854-GG-CC
NM_000021.3(
PSEN1
):c.1150_1151inv;(p.G384P)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: G384P
PubMed Link:
20534834
Variant Present in the following documents:
Main text
View BVdb publication page