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PSEN1 c.298A>T ;(p.I100F)
Variant ID: 14-73637715-A-T
NM_000021.3(
PSEN1
):c.298A>T;(p.I100F)
This variant was identified in 2 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: I100F
PubMed Link:
35928996
Variant Present in the following documents:
Main text
fnagi-14-903269.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: I100F
PubMed Link:
31937364
Variant Present in the following documents:
Main text
13195_2019_Article_572.pdf
View BVdb publication page