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PSEN1 c.415A>C ;(p.M139L)
Variant ID: 14-73640350-A-C
NM_000021.3(
PSEN1
):c.415A>C;(p.M139L)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
International Journal Of Molecular Sciences
Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-09-19
Variant appearance in text: PSEN1: Met139Leu
PubMed Link:
36142879
Variant Present in the following documents:
Main text
ijms-23-10970.pdf
View BVdb publication page
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: M139L
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: M139L
PubMed Link:
35769604
Variant Present in the following documents:
Main text
Data_Sheet_1.pdf
fnagi-14-900773.pdf
View BVdb publication page
Microtube Array Membrane Encapsulated Cell Therapy: A Novel Platform Technology Solution for Treatment of Alzheimer's Disease.
International Journal Of Molecular Sciences
Chen, Shu-Mei SM; Hsu, Tsung-Chin TC; Chew, Chee-Ho CH; Huang, Wan-Ting WT; Chen, Amanda Lin AL; Lin, Yung-Feng YF; Eddarkaoui, Sabiha S; Buee, Luc L; Chen, Chien-Chung CC
Publication Date: 2022-06-20
Variant appearance in text: PSEN1: M139L
PubMed Link:
35743295
Variant Present in the following documents:
ijms-23-06855.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: M139L
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: M139L
PubMed Link:
31937364
Variant Present in the following documents:
Main text
13195_2019_Article_572.pdf
View BVdb publication page