GAA c.2481+1G>A

Variant ID: 17-78091549-G-A

NM_000152.3(GAA):c.2481+1G>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:

Induced pluripotent stem cell for modeling Pompe disease.

Frontiers In Cardiovascular Medicine
Huang, Wenjun W; Zhang, Yanmin Y; Zhou, Rui R
Publication Date: 2022

Variant appearance in text: GAA: 2481+1G>A
PubMed Link: 36620633
Variant Present in the following documents:
  • Main text
  • fcvm-09-1061384.pdf
View BVdb publication page


Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)
Park, Kyung-Sun KS
Publication Date: 2021-07-16

Variant appearance in text: GAA: 2481+1G>A
PubMed Link: 34356580
Variant Present in the following documents:
  • Main text
  • children-08-00601.pdf
View BVdb publication page