PSEN1 c.1238_1239delinsAG ;(p.A413E)

Variant ID: 14-73683942-CC-AG

NM_000021.3(PSEN1):c.1238_1239delinsAG;(p.A413E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience
Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ
Publication Date: 2022

Variant appearance in text: PSEN1: A413E
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.pdf
View BVdb publication page



Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function.

Theranostics
Han, Jihoon J; Park, Heejin H; Maharana, Chinmoyee C; Gwon, A-Ryeong AR; Park, Jinsu J; Baek, Seung Hyun SH; Bae, Han-Gyu HG; Cho, Yoonsuk Y; Kim, Hark Kyun HK; Sul, Jae Hoon JH; Lee, Jeongmi J; Kim, Eunae E; Kim, Junsik J; Cho, Yongeun Y; Park, Sunyoung S; Palomera, Leon F LF; Arumugam, Thiruma V TV; Mattson, Mark P MP; Jo, Dong-Gyu DG
Publication Date: 2021

Variant appearance in text: PS1: A413E
PubMed Link: 34522215
Variant Present in the following documents:
  • thnov11p8855s1.pdf
View BVdb publication page