APOE c.832_833delinsAT ;(p.R278I)

Variant ID: 19-45412385-CG-AT

NM_000041.2(APOE):c.832_833delinsAT;(p.R278I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.

Journal Of Clinical Medicine
Rujeedawa, Tanzil T; Carrillo Félez, Eva E; Clare, Isabel C H ICH; Fortea, Juan J; Strydom, Andre A; Rebillat, Anne-Sophie AS; Coppus, Antonia A; Levin, Johannes J; Zaman, Shahid H SH
Publication Date: 2021-10-03

Variant appearance in text: APOE: R278I
PubMed Link: 34640600
Variant Present in the following documents:
  • jcm-10-04582.pdf
View BVdb publication page



Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)
Toomey, Christina E CE; Heywood, Wendy W; Benson, Bridget C BC; Packham, Georgia G; Mills, Kevin K; Lashley, Tammaryn T
Publication Date: 2020-07

Variant appearance in text: APOE: R278I
PubMed Link: 32267026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aβ43 in human Alzheimer's disease: effects of active Aβ42 immunization.

Acta Neuropathologica Communications
Jäkel, Lieke L; Boche, Delphine D; Nicoll, James A R JAR; Verbeek, Marcel M MM
Publication Date: 2019-09-02

Variant appearance in text: APOE: R278I
PubMed Link: 31477180
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_791.pdf
View BVdb publication page



Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer's Disease, But Has Similar Diagnostic Accuracy to Aβ42.

Frontiers In Aging Neuroscience
Lauridsen, Camilla C; Sando, Sigrid B SB; Møller, Ina I; Berge, Guro G; Pomary, Precious K PK; Grøntvedt, Gøril R GR; Salvesen, Øyvind Ø; Bråthen, Geir G; White, Linda R LR
Publication Date: 2017

Variant appearance in text: APOE: R278I
PubMed Link: 28701950
Variant Present in the following documents:
  • Main text
  • fnagi-09-00210.pdf
View BVdb publication page



Cerebrospinal Fluid Levels of Amyloid Beta 1-43 in Patients with Amnestic Mild Cognitive Impairment or Early Alzheimer's Disease: A 2-Year Follow-Up Study.

Frontiers In Aging Neuroscience
Lauridsen, Camilla C; Sando, Sigrid B SB; Shabnam, Adiba A; Møller, Ina I; Berge, Guro G; Grøntvedt, Gøril R GR; Bakken, Inger J IJ; Salvesen, Øyvind Ø; Bråthen, Geir G; White, Linda R LR
Publication Date: 2016

Variant appearance in text: APOE: R278I
PubMed Link: 26973507
Variant Present in the following documents:
  • Main text
  • fnagi-08-00030.pdf
View BVdb publication page



Clinical, imaging, and pathological heterogeneity of the Alzheimer's disease syndrome.

Alzheimer'S Research & Therapy
Lam, Benjamin B; Masellis, Mario M; Freedman, Morris M; Stuss, Donald T DT; Black, Sandra E SE
Publication Date: 2013

Variant appearance in text: APOE: R278I
PubMed Link: 23302773
Variant Present in the following documents:
  • alzrt155.pdf
View BVdb publication page