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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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