APP c.913_914delinsAT ;(p.S305I)

Variant ID: 21-27372449-GA-AT

NM_000484.3(APP):c.913_914delinsAT;(p.S305I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phosphorylated Tau in Alzheimer's Disease and Other Tauopathies.

International Journal Of Molecular Sciences
Rawat, Priyanka P; Sehar, Ujala U; Bisht, Jasbir J; Selman, Ashley A; Culberson, John J; Reddy, P Hemachandra PH
Publication Date: 2022-10-25

Variant appearance in text: APP: S305I
PubMed Link: 36361631
Variant Present in the following documents:
  • Main text
  • ijms-23-12841.pdf
View BVdb publication page



APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer's disease patient iPSC-derived cerebral organoids.

Nature Communications
Zhao, Jing J; Fu, Yuan Y; Yamazaki, Yu Y; Ren, Yingxue Y; Davis, Mary D MD; Liu, Chia-Chen CC; Lu, Wenyan W; Wang, Xue X; Chen, Kai K; Cherukuri, Yesesri Y; Jia, Lin L; Martens, Yuka A YA; Job, Lucy L; Shue, Francis F; Nguyen, Thanh Thanh TT; Younkin, Steven G SG; Graff-Radford, Neill R NR; Wszolek, Zbigniew K ZK; Brafman, David A DA; Asmann, Yan W YW; Ertekin-Taner, Nilüfer N; Kanekiyo, Takahisa T; Bu, Guojun G
Publication Date: 2020-11-02

Variant appearance in text: APP: S305I
PubMed Link: 33139712
Variant Present in the following documents:
  • 41467_2020_Article_19264.pdf
View BVdb publication page



Propagation of Tau aggregates.

Molecular Brain
Goedert, Michel M; Spillantini, Maria Grazia MG
Publication Date: 2017-05-30

Variant appearance in text: APP: S305I
PubMed Link: 28558799
Variant Present in the following documents:
  • Main text
  • 13041_2017_Article_298.pdf
View BVdb publication page