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APP c.136A>G ;(p.N46D)
Variant ID: 21-27484385-T-C
NM_000484.3(
APP
):c.136A>G;(p.N46D)
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:
Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and cancer.
Aims Neuroscience
Nguyen, Khue Vu KV
Publication Date: 2022
Variant appearance in text: APP: N46D
PubMed Link:
35860682
Variant Present in the following documents:
Main text
neurosci-09-02-010.pdf
View BVdb publication page
Cleavage of amyloid precursor protein by an archaeal presenilin homologue PSH.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Dang, Shangyu S; Wu, Shenjie S; Wang, Jiawei J; Li, Hongbo H; Huang, Min M; He, Wei W; Li, Yue-Ming YM; Wong, Catherine C L CC; Shi, Yigong Y
Publication Date: 2015-03-17
Variant appearance in text: APP: N46D
PubMed Link:
25733893
Variant Present in the following documents:
Main text
View BVdb publication page