GAA c.*139_*140insGG

Variant ID: 17-78093268-C-CGG

NM_000152.3(GAA):c.*139_*140insGG

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Current status of newborn screening for Pompe disease in Japan.

Orphanet Journal Of Rare Diseases
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2021-12-18

Variant appearance in text: rs865903736
PubMed Link: 34922579
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2146.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs865903736
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page