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GAA c.1194+5G>A
Variant ID: 17-78082411-G-A
NM_000152.3(
GAA
):c.1194+5G>A
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:
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Frontiers In Neurology
Alonso-Jiménez, Alicia A; Nuñez-Peralta, Claudia C; Montesinos, Paula P; Alonso-Pérez, Jorge J; García, Carme C; Montiel, Elena E; Belmonte, Izaskun I; Pedrosa, Irene I; Segovia, Sonia S; Llauger, Jaume J; Díaz-Manera, Jordi J
Publication Date: 2021
Variant appearance in text: GAA: 1194+5G>A
PubMed Link:
34305788
Variant Present in the following documents:
Main text
fneur-12-675781.pdf
View BVdb publication page
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Plos One
Figueroa-Bonaparte, Sebastián S; Segovia, Sonia S; Llauger, Jaume J; Belmonte, Izaskun I; Pedrosa, Irene I; Alejaldre, Aída A; Mayos, Mercè M; Suárez-Cuartín, Guillermo G; Gallardo, Eduard E; Illa, Isabel I; Díaz-Manera, Jordi J; ,
Publication Date: 2016
Variant appearance in text: GAA: 1194+5G>A
PubMed Link:
27711114
Variant Present in the following documents:
Main text
pone.0163493.pdf
View BVdb publication page