Publications:

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Cys263Trp

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

International Journal Of Molecular Sciences

Tortelli, Rosanna R; Seripa, Davide D; Zecca, Chiara C; Dell'Abate, Maria Teresa MT; Bisceglia, Paola P; Barulli, Maria Rosaria MR; De Blasi, Roberto R; Logroscino, Giancarlo G

Publication Date: 2021-06-09

Variant appearance in text: PSEN1: 789T>G; Cys263Trp

PubMed Link: 34207526

Variant Present in the following documents:

• Main text
• ijms-22-06215.pdf

View BVdb publication page