APP c.839_840inv ;(p.T280M)

Variant ID: 21-27394181-TG-CA

NM_000484.3(APP):c.839_840inv;(p.T280M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

International Journal Of Molecular Sciences
Palma-Lara, Icela I; Pérez-Ramírez, Monserrat M; García Alonso-Themann, Patricia P; Espinosa-García, Ana María AM; Godinez-Aguilar, Ricardo R; Bonilla-Delgado, José J; López-Ornelas, Adolfo A; Victoria-Acosta, Georgina G; Olguín-García, María Guadalupe MG; Moreno, José J; Palacios-Reyes, Carmen C
Publication Date: 2021-07-27

Variant appearance in text: APP: Thr280Met
PubMed Link: 34360805
Variant Present in the following documents:
  • Main text
  • ijms-22-08039.pdf
View BVdb publication page



CX3CL1/CX3CR1 in Alzheimer's Disease: A Target for Neuroprotection.

Biomed Research International
Chen, Peiqing P; Zhao, Wenjuan W; Guo, Yanjie Y; Xu, Juan J; Yin, Ming M
Publication Date: 2016

Variant appearance in text: APP: T280M
PubMed Link: 27429982
Variant Present in the following documents:
  • BMRI2016-8090918.pdf
View BVdb publication page