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PSEN1 c.332G>T ;(p.G111V)
Variant ID: 14-73637749-G-T
NM_000021.3(
PSEN1
):c.332G>T;(p.G111V)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.
Frontiers In Aging Neuroscience
Qiu, Qiongqiong Q
Publication Date: 2022
Variant appearance in text: PSEN1: G111V
PubMed Link:
35928996
Variant Present in the following documents:
Main text
fnagi-14-903269.pdf
View BVdb publication page
Phosphorylated Tau 181 Serum Levels Predict Alzheimer's Disease in the Preclinical Stage.
Frontiers In Aging Neuroscience
Qin, Wei W; Li, Fangyu F; Jia, Longfei L; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Li, Yan Y; Jin, Hongmei H; Jia, Jianping J
Publication Date: 2022
Variant appearance in text: PSEN1: G111V
PubMed Link:
35769604
Variant Present in the following documents:
Main text
fnagi-14-900773.pdf
Data_Sheet_1.pdf
View BVdb publication page
Blood neuro-exosomal synaptic proteins predict Alzheimer's disease at the asymptomatic stage.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Jia, Longfei L; Zhu, Min M; Kong, Chaojun C; Pang, Yana Y; Zhang, Heng H; Qiu, Qiongqiong Q; Wei, Cuibai C; Tang, Yi Y; Wang, Qi Q; Li, Ying Y; Li, Tingting T; Li, Fangyu F; Wang, Qigeng Q; Li, Yan Y; Wei, Yiping Y; Jia, Jianping J
Publication Date: 2021-01
Variant appearance in text: PSEN1: Gly111Val
PubMed Link:
32776690
Variant Present in the following documents:
ALZ-17-49.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: PS1: 332G>T
PubMed Link:
32767553
Variant Present in the following documents:
Main text
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: G111V
PubMed Link:
32235595
Variant Present in the following documents:
Main text
ijms-21-02381.pdf
View BVdb publication page
Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.
Alzheimer'S Research & Therapy
Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J
Publication Date: 2020-01-14
Variant appearance in text: PS1: G111V
PubMed Link:
31937364
Variant Present in the following documents:
Main text
13195_2019_Article_572.pdf
View BVdb publication page
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25
Variant appearance in text: PSEN1: Gly111Val
PubMed Link:
31557888
Variant Present in the following documents:
Main text
ijms-20-04757.pdf
View BVdb publication page