GAA c.2080dup ;(p.A694Gfs*43)

Variant ID: 17-78087054-A-AG

NM_000152.3(GAA):c.2080dup;(p.A694Gfs*43)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 2079dupG
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Letter to the Editors: Concerning "Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi et al. and Letter to the Editors by Ortolano et al.

Molecular Genetics And Metabolism Reports
Schänzer, Anne A; Giese, Kerstin K; Viergutz, Lara L; Hahn, Andreas A
Publication Date: 2017-09

Variant appearance in text: GAA: A694Gfs*43
PubMed Link: 28560178
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page