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GAA c.1163_1165del ;(p.V388del)
Variant ID: 17-78082369-AGGT-A
NM_000152.3(
GAA
):c.1163_1165del;(p.V388del)
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:
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Life (Basel, Switzerland)
Gal, Aniko A; Grosz, Zoltán Z; Borsos, Beata B; Szatmari, Ildikó I; Sebők, Agnes A; Jávor, Laszló L; Harmath, Veronika V; Szakszon, Katalin K; Dezsi, Livia L; Balku, Eniko E; Jobbagy, Zita Z; Herczegfalvi, Agnes A; Almássy, Zsuzsanna Z; Kerényi, Levente L; Molnar, Maria Judit MJ
Publication Date: 2021-05-31
Variant appearance in text: GAA: 1158_1160delGGT; Val388del
PubMed Link:
34072668
Variant Present in the following documents:
Main text
life-11-00507.pdf
View BVdb publication page