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.




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