APOE c.773_774delinsAA ;(p.R258Q)

Variant ID: 19-45412326-GC-AA

NM_000041.2(APOE):c.773_774delinsAA;(p.R258Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Brain : A Journal Of Neurology
Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR
Publication Date: 2019-09-01

Variant appearance in text: APOE: R258Q
PubMed Link: 31324919
Variant Present in the following documents:
  • awz191_supplementary_data.pdf
View BVdb publication page



Induced pluripotent stem cells for neural drug discovery.

Drug Discovery Today
Farkhondeh, Atena A; Li, Rong R; Gorshkov, Kirill K; Chen, Kevin G KG; Might, Matthew M; Rodems, Steven S; Lo, Donald C DC; Zheng, Wei W
Publication Date: 2019-04

Variant appearance in text: APOE: R258Q
PubMed Link: 30664937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synapses in neurodegenerative diseases.

Bmb Reports
Bae, Jae Ryul JR; Kim, Sung Hyun SH
Publication Date: 2017-05

Variant appearance in text: APOE: Arg258Gln
PubMed Link: 28270301
Variant Present in the following documents:
  • Main text
  • bmb-50-237.pdf
View BVdb publication page