Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page