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APP c.349_350delinsGC ;(p.C117A)
Variant ID: 21-27462264-CA-GC
NM_000484.3(
APP
):c.349_350delinsGC;(p.C117A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Secreted APP regulates the function of full-length APP in neurite outgrowth through interaction with integrin beta1.
Neural Development
Young-Pearse, Tracy L TL; Chen, Allen C AC; Chang, Rui R; Marquez, Cesar C; Selkoe, Dennis J DJ
Publication Date: 2008-06-23
Variant appearance in text: APP: C117A
PubMed Link:
18573216
Variant Present in the following documents:
Main text
1749-8104-3-15.pdf
View BVdb publication page
A critical function for beta-amyloid precursor protein in neuronal migration revealed by in utero RNA interference.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Young-Pearse, Tracy L TL; Bai, Jilin J; Chang, Rui R; Zheng, Jessica B JB; LoTurco, Joseph J JJ; Selkoe, Dennis J DJ
Publication Date: 2007-12-26
Variant appearance in text: APP: C117A
PubMed Link:
18160654
Variant Present in the following documents:
Main text
View BVdb publication page