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GAA c.2646+2_2646+3del
Variant ID: 17-78092155-ATG-A
NM_000152.3(
GAA
):c.2646+2_2646+3del
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.
Molecular Therapy. Methods & Clinical Development
Buratti, Emanuele E; Peruzzo, Paolo P; Braga, Luca L; Zanin, Irene I; Stuani, Cristiana C; Goina, Elisa E; Romano, Maurizio M; Giacca, Mauro M; Dardis, Andrea A
Publication Date: 2021-03-12
Variant appearance in text: GAA: 2646_2646+1del
PubMed Link:
33426149
Variant Present in the following documents:
Main text
mmc4.pdf
main.pdf
View BVdb publication page
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Goina, Elisa E; Peruzzo, Paolo P; Bembi, Bruno B; Dardis, Andrea A; Buratti, Emanuele E
Publication Date: 2017-09-06
Variant appearance in text: GAA: 2646_2646+1del
PubMed Link:
28629821
Variant Present in the following documents:
Main text
mmc1.pdf
mmc2.pdf
main.pdf
View BVdb publication page
The missing puzzle piece: splicing mutations.
International Journal Of Clinical And Experimental Pathology
Lewandowska, Marzena A MA
Publication Date: 2013
Variant appearance in text: GAA: 2646_2646+1del
PubMed Link:
24294354
Variant Present in the following documents:
Main text
View BVdb publication page
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
European Journal Of Human Genetics : Ejhg
Zampieri, Stefania S; Buratti, Emanuele E; Dominissini, Silvia S; Montalvo, Anna Lisa AL; Pittis, Maria Gabriela MG; Bembi, Bruno B; Dardis, Andrea A
Publication Date: 2011-04
Variant appearance in text: GAA: 2646_2646+1del
PubMed Link:
21179066
Variant Present in the following documents:
Main text
View BVdb publication page