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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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