GAA c.2228A>C ;(p.Q743P)

Variant ID: 17-78090805-A-C

NM_000152.3(GAA):c.2228A>C;(p.Q743P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ultrasonography of abdominal muscles: Differential diagnosis of late-onset Pompe disease and myotonic dystrophy type 1.

Frontiers In Neurology
Hsieh, Pei-Chen PC; Chang, Chun-Wei CW; Ro, Long-Sun LS; Huang, Chin-Chang CC; Chi, Jia-En JE; Kuo, Hung-Chou HC
Publication Date: 2022

Variant appearance in text: GAA: 2228A>C
PubMed Link: 36147041
Variant Present in the following documents:
  • Main text
  • fneur-13-944464.pdf
View BVdb publication page



Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.

Orphanet Journal Of Rare Diseases
Hsueh, Chien-Yu CY; Huang, Chii-Yuan CY; Yang, Chia-Feng CF; Chang, Chia-Chen CC; Lin, Wei-Sheng WS; Cheng, Hsiu-Lien HL; Wu, Shang-Liang SL; Cheng, Yen-Fu YF; Niu, Dau-Ming DM
Publication Date: 2021-08-05

Variant appearance in text: GAA: 2228A>C; Q743P
PubMed Link: 34353347
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1817.pdf
View BVdb publication page