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PRRT2 c.888C>T ;(p.N296=)
Variant ID: 16-29825662-C-T
NM_145239.2(
PRRT2
):c.888C>T;(p.N296=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Targeting Tau to Treat Clinical Features of Huntington's Disease.
Frontiers In Neurology
Masnata, Maria M; Salem, Shireen S; de Rus Jacquet, Aurelie A; Anwer, Mehwish M; Cicchetti, Francesca F
Publication Date: 2020
Variant appearance in text: PKC: N296N
PubMed Link:
33329322
Variant Present in the following documents:
fneur-11-580732.pdf
View BVdb publication page
The role of tau in neurodegenerative diseases and its potential as a therapeutic target.
Scientifica
Wolfe, Michael S MS
Publication Date: 2012
Variant appearance in text: PKC: N296N
PubMed Link:
24278740
Variant Present in the following documents:
SCIENTIFICA2012-796024.pdf
View BVdb publication page
Tau and tauopathies.
Progress In Molecular Biology And Translational Science
Lee, Gloria G; Leugers, Chad J CJ
Publication Date: 2012
Variant appearance in text: PKC: N296N
PubMed Link:
22482453
Variant Present in the following documents:
Main text
View BVdb publication page