GAA c.1075+2T>C

Variant ID: 17-78082210-T-C

NM_000152.3(GAA):c.1075+2T>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

Children (Basel, Switzerland)
de Las Heras, Javier J; Cano, Ainara A; Vinuesa, Ana A; Montes, Marta M; Unceta Suarez, María M; Arza, Arantza A; Jiménez, Saioa S; Vera, Elena E; Del Hoyo, Marta M; Gendive, Miriam M; Aguirre, Lizar L; Muñoz, Gisela G; Fernández, Javier J; Ruiz-Espinoza, Cynthia C; Fernández, María Ángeles MÁ; Galdeano, José Miguel JM; Rodríguez, Irene I; Román, Lourdes L; Rodríguez-Serna, Amaya A; Loureiro, Begoña B; Astigarraga, Itziar I
Publication Date: 2021-11-09

Variant appearance in text: GAA: 1075+2T>C
PubMed Link: 34828739
Variant Present in the following documents:
  • Main text
  • children-08-01026.pdf
View BVdb publication page