GAA c.1631T>A ;(p.V544E)

Variant ID: 17-78084819-T-A

NM_000152.3(GAA):c.1631T>A;(p.V544E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International Journal Of Neonatal Screening
Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K
Publication Date: 2020-03

Variant appearance in text: GAA: 1631T>A
PubMed Link: 33073003
Variant Present in the following documents:
  • Main text
  • IJNS-06-00004.pdf
View BVdb publication page