APP c.671A>G ;(p.K224R)

Variant ID: 21-27394350-T-C

NM_000484.3(APP):c.671A>G;(p.K224R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Contribution of rare variant associations to neurodegenerative disease presentation.

Npj Genomic Medicine
Dilliott, Allison A AA; Abdelhady, Abdalla A; Sunderland, Kelly M KM; Farhan, Sali M K SMK; Abrahao, Agessandro A; Binns, Malcolm A MA; Black, Sandra E SE; Borrie, Michael M; Casaubon, Leanne K LK; Dowlatshahi, Dar D; Finger, Elizabeth E; Fischer, Corinne E CE; Frank, Andrew A; Freedman, Morris M; Grimes, David D; Hassan, Ayman A; Jog, Mandar M; Kumar, Sanjeev S; Kwan, Donna D; Lang, Anthony E AE; Mandzia, Jennifer J; Masellis, Mario M; McIntyre, Adam D AD; Pasternak, Stephen H SH; Pollock, Bruce G BG; Rajji, Tarek K TK; Rogaeva, Ekaterina E; Sahlas, Demetrios J DJ; Saposnik, Gustavo G; Sato, Christine C; Seitz, Dallas D; Shoesmith, Christen C; Steeves, Thomas D L TDL; Swartz, Richard H RH; Tan, Brian B; Tang-Wai, David F DF; Tartaglia, Maria C MC; Turnbull, John J; Zinman, Lorne L; , ; Hegele, Robert A RA
Publication Date: 2021-09-28

Variant appearance in text: APP: 671A>G; Lys224Arg
PubMed Link: 34584092
Variant Present in the following documents:
  • 41525_2021_243_MOESM1_ESM.pdf
View BVdb publication page