PSEN1 c.480+501C>T

Variant ID: 14-73640916-C-T

NM_000021.3(PSEN1):c.480+501C>T

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Neuroscience Letters
Cornejo-Olivas, Mario R MR; Yu, Chang-En CE; Mazzetti, Pilar P; Mata, Ignacio F IF; Meza, Maria M; Lindo-Samanamud, Saul S; Leverenz, James B JB; Bird, Thomas D TD
Publication Date: 2014-03-20

Variant appearance in text: PSEN1: 480+501C>T
PubMed Link: 24495933
Variant Present in the following documents:
  • Main text
View BVdb publication page