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GAA c.1532C>A ;(p.P511H)
Variant ID: 17-78084620-C-A
NM_000152.3(
GAA
):c.1532C>A;(p.P511H)
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:
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Scientific Reports
Figueroa-Bonaparte, Sebastian S; Llauger, Jaume J; Segovia, Sonia S; Belmonte, Izaskun I; Pedrosa, Irene I; Montiel, Elena E; Montesinos, Paula P; Sánchez-González, Javier J; Alonso-Jiménez, Alicia A; Gallardo, Eduard E; Illa, Isabel I; , ; Díaz-Manera, Jordi J
Publication Date: 2018-07-18
Variant appearance in text: GAA: 1532C>A
PubMed Link:
30022036
Variant Present in the following documents:
Main text
41598_2018_Article_29170.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: 1532C>A
PubMed Link:
27711114
Variant Present in the following documents:
Main text
pone.0163493.pdf
View BVdb publication page