GAA c.1777del ;(p.T593Hfs*5)

Variant ID: 17-78086399-GA-G

NM_000152.3(GAA):c.1777del;(p.T593Hfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: T593HfsX5
PubMed Link: 17915575
Variant Present in the following documents:
  • Main text
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