GAA c.1888+5G>T

Variant ID: 17-78086515-G-T

NM_000152.3(GAA):c.1888+5G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: GAA: 1888+5G>T
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Newborn Screening for Pompe Disease: Pennsylvania Experience.

International Journal Of Neonatal Screening
Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R
Publication Date: 2020-11-13

Variant appearance in text: GAA: 1888+5G>T
PubMed Link: 33202836
Variant Present in the following documents:
  • Main text
  • IJNS-06-00089.pdf
View BVdb publication page