GAA c.766_785del ;(p.Y256Afs*67)

Variant ID: 17-78081429-GTATATCACAGGCCTCGCCGA-G

NM_000152.3(GAA):c.766_785del;(p.Y256Afs*67)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Jimd Reports
Pena, Loren D M LD; Proia, Alan D AD; Kishnani, Priya S PS
Publication Date: 2015

Variant appearance in text: GAA: 766_785del
PubMed Link: 25763511
Variant Present in the following documents:
  • Main text
View BVdb publication page