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GAA c.2407_2413del ;(p.Q803*)
Variant ID: 17-78091470-GGGGCAGT-G
NM_000152.3(
GAA
):c.2407_2413del;(p.Q803*)
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:
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: 2407_2413del
PubMed Link:
34356580
Variant Present in the following documents:
Main text
children-08-00601.pdf
View BVdb publication page