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PC c.1278_1279insTACT ;(p.V427Yfs*126)
Variant ID: 11-66631334-C-CAGTA
NM_001040716.1(
PC
):c.1278_1279insTACT;(p.V427Yfs*126)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
The Journal Of Biological Chemistry
Maegawa, Gustavo H B GH; Tropak, Michael M; Buttner, Justin J; Stockley, Tracy T; Kok, Fernando F; Clarke, Joe T R JT; Mahuran, Don J DJ
Publication Date: 2007-03-23
Variant appearance in text: PC: 1278insTACT
PubMed Link:
17237499
Variant Present in the following documents:
Main text
View BVdb publication page