PSEN1 c.346_347delinsCT ;(p.T116L)

Variant ID: 14-73640281-AC-CT

NM_000021.3(PSEN1):c.346_347delinsCT;(p.T116L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging
Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW
Publication Date: 2019-04

Variant appearance in text: PSEN1: T116L
PubMed Link: 30528841
Variant Present in the following documents:
  • Main text
View BVdb publication page



Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications
Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC
Publication Date: 2018-07-24

Variant appearance in text: PS1: T116l
PubMed Link: 30042426
Variant Present in the following documents:
  • 41467_2018_Article_5262.pdf
View BVdb publication page