APP c.1874_1885del ;(p.G625_S628del)

Variant ID: 21-27284076-ACAGAGTCAGCCC-A

NM_000484.3(APP):c.1874_1885del;(p.G625_S628del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Seeing Neurodegeneration in a New Light Using Genetically Encoded Fluorescent Biosensors and iPSCs.

International Journal Of Molecular Sciences
Stellon, David D; Talbot, Jana J; Hewitt, Alex W AW; King, Anna E AE; Cook, Anthony L AL
Publication Date: 2023-01-16

Variant appearance in text: APP: G625_S628del
PubMed Link: 36675282
Variant Present in the following documents:
  • Main text
  • ijms-24-01766.pdf
View BVdb publication page



Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome Medicine
Perrone, Federica F; Cacace, Rita R; van der Zee, Julie J; Van Broeckhoven, Christine C
Publication Date: 2021-04-14

Variant appearance in text: APP: G625_S628del
PubMed Link: 33853652
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_878.pdf
View BVdb publication page



Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy
Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,
Publication Date: 2020-09-11

Variant appearance in text: APP: G625_S628del
PubMed Link: 32917274
Variant Present in the following documents:
  • Main text
  • 13195_2020_Article_676.pdf
View BVdb publication page