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PSEN1 c.1115A>G ;(p.E372G)
Variant ID: 14-73678636-A-G
NM_000021.3(
PSEN1
):c.1115A>G;(p.E372G)
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:
Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review.
Journal Of Alzheimer'S Disease : Jad
Chu, Min M; Liu, Li L; Nan, Haitian H; Jiang, Deming D; Wang, Yihao Y; Rosa-Neto, Pedro P; Piao, Yueshan Y; Wu, Liyong L
Publication Date: 2022
Variant appearance in text: PSEN1: E372G
PubMed Link:
36214000
Variant Present in the following documents:
jad-90-jad220679.pdf
View BVdb publication page
Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations.
Molecular Biology Of The Cell
Caneus, Julbert J; Granic, Antoneta A; Rademakers, Rosa R; Dickson, Dennis W DW; Coughlan, Christina M CM; Chial, Heidi J HJ; Potter, Huntington H
Publication Date: 2018-03-01
Variant appearance in text: PSEN1: E372G
PubMed Link:
29282277
Variant Present in the following documents:
Main text
mbc-29-575.pdf
View BVdb publication page