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PSEN1 c.665A>T ;(p.Q222L)
Variant ID: 14-73659468-A-T
NM_000021.3(
PSEN1
):c.665A>T;(p.Q222L)
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:
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10
Variant appearance in text: PSEN1: 665A>T
PubMed Link:
32767553
Variant Present in the following documents:
Main text
MGG3-8-e1443.pdf
View BVdb publication page
The Genetics of Alzheimer's Disease in the Chinese Population.
International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30
Variant appearance in text: PSEN1: Gln222Leu
PubMed Link:
32235595
Variant Present in the following documents:
Main text
ijms-21-02381.pdf
View BVdb publication page