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.




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