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APP c.439_440delinsGC ;(p.H147A)
Variant ID: 21-27425580-TG-GC
NM_000484.3(
APP
):c.439_440delinsGC;(p.H147A)
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:
The amyloid precursor protein represses expression of acetylcholinesterase in neuronal cell lines.
The Journal Of Biological Chemistry
Hicks, David A DA; Makova, Natalia Z NZ; Gough, Mallory M; Parkin, Edward T ET; Nalivaeva, Natalia N NN; Turner, Anthony J AJ
Publication Date: 2013-09-06
Variant appearance in text: APP: H147A
PubMed Link:
23897820
Variant Present in the following documents:
Main text
View BVdb publication page