Bibliome.ai browser hg19
Search
About
Stats
FAQ
APP c.2069T>C ;(p.F690S)
Variant ID: 21-27264176-A-G
NM_000484.3(
APP
):c.2069T>C;(p.F690S)
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:
ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease.
Ebiomedicine
Letronne, Florent F; Laumet, Geoffroy G; Ayral, Anne-Marie AM; Chapuis, Julien J; Demiautte, Florie F; Laga, Mathias M; Vandenberghe, Michel E ME; Malmanche, Nicolas N; Leroux, Florence F; Eysert, Fanny F; Sottejeau, Yoann Y; Chami, Linda L; Flaig, Amandine A; Bauer, Charlotte C; Dourlen, Pierre P; Lesaffre, Marie M; Delay, Charlotte C; Huot, Ludovic L; Dumont, Julie J; Werkmeister, Elisabeth E; Lafont, Franck F; Mendes, Tiago T; Hansmannel, Franck F; Dermaut, Bart B; Deprez, Benoit B; Hérard, Anne-Sophie AS; Dhenain, Marc M; Souedet, Nicolas N; Pasquier, Florence F; Tulasne, David D; Berr, Claudine C; Hauw, Jean-Jacques JJ; Lemoine, Yves Y; Amouyel, Philippe P; Mann, David D; Déprez, Rebecca R; Checler, Frédéric F; Hot, David D; Delzescaux, Thierry T; Gevaert, Kris K; Lambert, Jean-Charles JC
Publication Date: 2016-07
Variant appearance in text: APP: F690S
PubMed Link:
27333034
Variant Present in the following documents:
Main text
mmc1.pdf
View BVdb publication page