GAA c.524del ;(p.T175Mfs*46)

Variant ID: 17-78078909-AC-A

NM_000152.3(GAA):c.524del;(p.T175Mfs*46)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.

Embo Molecular Medicine
Tarallo, Antonietta A; Damiano, Carla C; Strollo, Sandra S; Minopoli, Nadia N; Indrieri, Alessia A; Polishchuk, Elena E; Zappa, Francesca F; Nusco, Edoardo E; Fecarotta, Simona S; Porto, Caterina C; Coletta, Marcella M; Iacono, Roberta R; Moracci, Marco M; Polishchuk, Roman R; Medina, Diego Luis DL; Imbimbo, Paola P; Monti, Daria Maria DM; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G
Publication Date: 2021-11-08

Variant appearance in text: GAA: T175fsX46
PubMed Link: 34606154
Variant Present in the following documents:
  • Main text
  • EMMM-13-e14434.pdf
View BVdb publication page