GAA c.2331+2T>G

Variant ID: 17-78090910-T-G

NM_000152.3(GAA):c.2331+2T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.

Peerj
Vaeggemose, Michael M; Mencagli, Rosa Andersen RA; Hansen, Julie Schjødtz JS; Dräger, Bianca B; Ringgaard, Steffen S; Vissing, John J; Andersen, Henning H
Publication Date: 2021

Variant appearance in text: GAA: 2331+2T>G
PubMed Link: 33996274
Variant Present in the following documents:
  • Main text
  • peerj-09-10928.pdf
View BVdb publication page



Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Endocrine Connections
Preisler, Nicolai N; Laforêt, Pascal P; Madsen, Karen Lindhardt KL; Husu, Edith E; Vissing, Christoffer Rasmus CR; Hedermann, Gitte G; Galbo, Henrik H; Lindberg, Christopher C; Vissing, John J
Publication Date: 2017-08

Variant appearance in text: GAA: 2331+2T>G
PubMed Link: 28490439
Variant Present in the following documents:
  • ec-6-384.pdf
View BVdb publication page