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GAA c.524del ;(p.T175Mfs*46)
Variant ID: 17-78078909-AC-A
NM_000152.3(
GAA
):c.524del;(p.T175Mfs*46)
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:
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Embo Molecular Medicine
Tarallo, Antonietta A; Damiano, Carla C; Strollo, Sandra S; Minopoli, Nadia N; Indrieri, Alessia A; Polishchuk, Elena E; Zappa, Francesca F; Nusco, Edoardo E; Fecarotta, Simona S; Porto, Caterina C; Coletta, Marcella M; Iacono, Roberta R; Moracci, Marco M; Polishchuk, Roman R; Medina, Diego Luis DL; Imbimbo, Paola P; Monti, Daria Maria DM; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G
Publication Date: 2021-11-08
Variant appearance in text: GAA: T175fsX46
PubMed Link:
34606154
Variant Present in the following documents:
Main text
EMMM-13-e14434.pdf
View BVdb publication page