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APP c.2113_2114delinsTG ;(p.L705C)
Variant ID: 21-27264131-AG-CA
NM_000484.3(
APP
):c.2113_2114delinsTG;(p.L705C)
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:
Competition between homodimerization and cholesterol binding to the C99 domain of the amyloid precursor protein.
Biochemistry
Song, Yuanli Y; Hustedt, Eric J EJ; Brandon, Suzanne S; Sanders, Charles R CR
Publication Date: 2013-07-30
Variant appearance in text: APP: L705C
PubMed Link:
23865807
Variant Present in the following documents:
Main text
View BVdb publication page