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APP c.118_119inv ;(p.R40L)
Variant ID: 21-27484402-CT-AG
NM_000484.3(
APP
):c.118_119inv;(p.R40L)
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:
A conserved regulatory mode in exocytic membrane fusion revealed by Mso1p membrane interactions.
Molecular Biology Of The Cell
Weber-Boyvat, Marion M; Zhao, Hongxia H; Aro, Nina N; Yuan, Qiang Q; Chernov, Konstantin K; Peränen, Johan J; Lappalainen, Pekka P; Jäntti, Jussi J
Publication Date: 2013-02
Variant appearance in text: APP: R40L
PubMed Link:
23197474
Variant Present in the following documents:
Main text
View BVdb publication page