PSEN1 c.1345_1347inv ;(p.T449C)

Variant ID: 14-73685938-ACA-TGT

NM_000021.3(PSEN1):c.1345_1347inv;(p.T449C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology
Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC
Publication Date: 2019-01-31

Variant appearance in text: PSEN1: T449C
PubMed Link: 30958120
Variant Present in the following documents:
  • Main text
  • rsob-9-180177.pdf
View BVdb publication page



Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: T449C
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
View BVdb publication page