APP c.2168T>G ;(p.L723R)

Variant ID: 21-27264077-A-C

NM_000484.3(APP):c.2168T>G;(p.L723R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04

Variant appearance in text: APP: L723R
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Publication Date: 2014-11

Variant appearance in text: APP: Leu723Arg
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
  • 11910_2014_Article_499.pdf
View BVdb publication page