GAA c.2154del ;(p.A719Rfs*45)

Variant ID: 17-78087130-TC-T

NM_000152.3(GAA):c.2154del;(p.A719Rfs*45)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Annals Of Translational Medicine
Zhao, Hui-Hui HH; Ma, Zhi Z; Ying, Zi-Xuan ZX; Niu, Feng-Nan FN; Luo, Mao-Tao MT; Wang, Zheng Z; Cheng, Xi X; Zhang, Qian-Qian QQ; Niu, Qi Q
Publication Date: 2021-12

Variant appearance in text: GAA: 2154delC
PubMed Link: 35071497
Variant Present in the following documents:
  • Main text
  • atm-09-24-1803.pdf
  • atm-09-24-1803-supplementary.pdf
View BVdb publication page