HP c.388_390delinsTGT ;(p.E130C)

Variant ID: 16-72093033-GAG-TGT

NM_005143.3(HP):c.388_390delinsTGT;(p.E130C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of N-linked glycans as specific mediators of neuronal uptake of acetylated α-Synuclein.

Plos Biology
Birol, Melissa M; Wojcik, Slawomir P SP; Miranker, Andrew D AD; Rhoades, Elizabeth E
Publication Date: 2019-06

Variant appearance in text: HP: E130C
PubMed Link: 31211781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transmission electron microscopy characterization of fluorescently labelled amyloid β 1-40 and α-synuclein aggregates.

Bmc Biotechnology
Anderson, Valerie L VL; Webb, Watt W WW
Publication Date: 2011-12-19

Variant appearance in text: HP: E130C
PubMed Link: 22182687
Variant Present in the following documents:
  • Main text
  • 1472-6750-11-125.pdf
View BVdb publication page