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PSEN1 c.808A>T ;(p.M270L)
Variant ID: 14-73664777-A-T
NM_000021.3(
PSEN1
):c.808A>T;(p.M270L)
This variant was identified in 4 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: M270L
PubMed Link:
35928996
Variant Present in the following documents:
Main text
fnagi-14-903269.pdf
View BVdb publication page
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Npj Genomic Medicine
Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L
Publication Date: 2021-08-13
Variant appearance in text: PSEN1: M270L
PubMed Link:
34389718
Variant Present in the following documents:
Main text
41525_2021_Article_235.pdf
View BVdb publication page
Gene panel for Mendelian strokes.
Stroke And Vascular Neurology
Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y
Publication Date: 2020-12
Variant appearance in text: PSEN1: 808A>T; M270L
PubMed Link:
32341005
Variant Present in the following documents:
svn-2020-000352supp003.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: M270L
PubMed Link:
31937364
Variant Present in the following documents:
Main text
13195_2019_Article_572.pdf
View BVdb publication page