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GAA c.1830C>A ;(p.A610=)
Variant ID: 17-78086452-C-A
NM_000152.3(
GAA
):c.1830C>A;(p.A610=)
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:
Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.
G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07
Variant appearance in text: GAA: 1830C>A
PubMed Link:
28663342
Variant Present in the following documents:
2413FileS2.xlsx, sheet 1
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: A610A
PubMed Link:
17915575
Variant Present in the following documents:
Main text
View BVdb publication page