GAA c.1833_1839del ;(p.H612Rfs*82)

Variant ID: 17-78086452-CGGCCACT-C

NM_000152.3(GAA):c.1833_1839del;(p.H612Rfs*82)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine
Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2019-07

Variant appearance in text: GAA: 1833_1839del
PubMed Link: 31392197
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: 1833_1839del
PubMed Link: 17915575
Variant Present in the following documents:
  • Main text
View BVdb publication page