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GAA c.2553G>T ;(p.G851=)
Variant ID: 17-78092063-G-T
NM_000152.3(
GAA
):c.2553G>T;(p.G851=)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.
Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22
Variant appearance in text: GAA: 2553G>T
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.
Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022
Variant appearance in text: GAA: G851G
PubMed Link:
35311085
Variant Present in the following documents:
Table_1.xlsx, sheet 4
View BVdb publication page
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.
Iranian Journal Of Medical Sciences
Moravej, Hossein H; Amirhakimi, Anis A; Showraki, Alireza A; Amoozgar, Hamid H; Hadipour, Zahra Z; Nikfar, Ghasem G
Publication Date: 2018-03
Variant appearance in text: GAA: G851G
PubMed Link:
29749992
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular genetics of late onset glycogen storage disease II in Italy.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Pittis, M G MG; Filocamo, M M
Publication Date: 2007-07
Variant appearance in text: GAA: G851G
PubMed Link:
17915575
Variant Present in the following documents:
Main text
View BVdb publication page