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.




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