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.




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