PSEN1 c.908C>T ;(p.P303L)

Variant ID: 14-73673133-C-T

NM_000021.3(PSEN1):c.908C>T;(p.P303L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Pro303Leu
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
View BVdb publication page



Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Publication Date: 2018

Variant appearance in text: PSEN1: P303L
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
View BVdb publication page