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APP c.1873_1874delinsCT ;(p.G625L)
Variant ID: 21-27284088-CC-AG
NM_000484.3(
APP
):c.1873_1874delinsCT;(p.G625L)
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:
Amyloid precursor protein controls cholesterol turnover needed for neuronal activity.
Embo Molecular Medicine
Pierrot, Nathalie N; Tyteca, Donatienne D; D'auria, Ludovic L; Dewachter, Ilse I; Gailly, Philippe P; Hendrickx, Aurélie A; Tasiaux, Bernadette B; Haylani, Laetitia El LE; Muls, Nathalie N; N'kuli, Francisca F; Laquerrière, Annie A; Demoulin, Jean-Baptiste JB; Campion, Dominique D; Brion, Jean-Pierre JP; Courtoy, Pierre J PJ; Kienlen-Campard, Pascal P; Octave, Jean-Noël JN
Publication Date: 2013-04
Variant appearance in text: APP: G625L
PubMed Link:
23554170
Variant Present in the following documents:
Main text
emmm0005-0608.pdf
emmm0005-0608-sd1.pdf
View BVdb publication page