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PSEN1 c.308T>G ;(p.V103G)
Variant ID: 14-73637725-T-G
NM_000021.3(
PSEN1
):c.308T>G;(p.V103G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.
Alzheimer'S Research & Therapy
Takada, Leonel Tadao LT; Aláez-Verson, Carmen C; Burgute, Bhagyashri D BD; Nitrini, Ricardo R; Sosa, Ana Luisa AL; Castilhos, Raphael Machado RM; Chaves, Marcia Fagundes MF; Longoria, Erika-Mariana EM; Carrillo-Sánchez, Karol K; Brucki, Sonia Maria Dozzi SMD; Flores-Lagunes, Luis Leonardo LL; Molina, Carolina C; Olivares, Marcos Jimenez MJ; Ziegemeier, Ellen E; Petranek, Jennifer J; Goate, Alison M AM; Cruchaga, Carlos C; Renton, Alan E AE; Fernández, Maria Victoria MV; Day, Gregory S GS; McDade, Eric E; Bateman, Randall J RJ; Karch, Celeste M CM; Llibre-Guerra, Jorge J JJ; ,
Publication Date: 2022-08-05
Variant appearance in text: PSEN1: Val103Gly
PubMed Link:
35932032
Variant Present in the following documents:
Main text
13195_2022_Article_1052.pdf
View BVdb publication page
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: 308T>G
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: V103G
PubMed Link:
32235595
Variant Present in the following documents:
Main text
ijms-21-02381.pdf
View BVdb publication page