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GAA c.2275G>C ;(p.G759R)
Variant ID: 17-78090852-G-C
NM_000152.3(
GAA
):c.2275G>C;(p.G759R)
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:
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Metabolites
Saville, Jennifer T JT; Fuller, Maria M
Publication Date: 2021-07-08
Variant appearance in text: GAA: Gly759Arg
PubMed Link:
34357340
Variant Present in the following documents:
Main text
metabolites-11-00446.pdf
View BVdb publication page
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: GAA: G759R
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page