GAA c.2743_2744insCAGG ;(p.Q915Pfs*104)

Variant ID: 17-78092548-C-CCAGG

NM_000152.3(GAA):c.2743_2744insCAGG;(p.Q915Pfs*104)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports
Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS
Publication Date: 2019-09

Variant appearance in text: GAA: 2743_2746insCAGG
PubMed Link: 31193175
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page