APP c.802A>G ;(p.R268G)

Variant ID: 21-27394219-T-C

NM_000484.3(APP):c.802A>G;(p.R268G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.

Acta Neuropathologica Communications
Ando, Kunie K; Ndjim, Marième M; Turbant, Sabrina S; Fontaine, Gaëlle G; Pregoni, Gustavo G; Dauphinot, Luce L; Yilmaz, Zehra Z; Suain, Valérie V; Mansour, Salwa S; Authelet, Michèle M; De Dekker, Robert R; Leroy, Karelle K; Delatour, Benoît B; , ; Duyckaerts, Charles C; Potier, Marie-Claude MC; Brion, Jean-Pierre JP
Publication Date: 2020-06-03

Variant appearance in text: APP: R268G
PubMed Link: 32493451
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_954.pdf
View BVdb publication page