GAA c.2007C>G ;(p.P669=)

Variant ID: 17-78086793-C-G

NM_000152.3(GAA):c.2007C>G;(p.P669=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Immunotherapy for bilateral multiple ground glass opacities: An exploratory study for synchronous multiple primary lung cancer.

Frontiers In Immunology
Xu, Lin L; Shi, Meiqi M; Wang, Siwei S; Li, Ming M; Yin, Wenda W; Zhang, Jingyuan J; Zhu, Jun J; Jiang, Feng F; Xia, Wenjia W; Qiu, Ninglei N; Zhang, Zhi Z; Huang, Jianfeng J; Ma, Zhifei Z; Meng, Fanchen F; Zhu, Hongyu H; Dong, Guozhang G; Wang, Jie J; Yin, Rong R
Publication Date: 2022

Variant appearance in text: GAA: 2007C>G
PubMed Link: 36389707
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: GAA: P669P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Systems biology analysis of the Clostridioides difficile core-genome contextualizes microenvironmental evolutionary pressures leading to genotypic and phenotypic divergence.

Npj Systems Biology And Applications
Norsigian, Charles J CJ; Danhof, Heather A HA; Brand, Colleen K CK; Oezguen, Numan N; Midani, Firas S FS; Palsson, Bernhard O BO; Savidge, Tor C TC; Britton, Robert A RA; Spinler, Jennifer K JK; Monk, Jonathan M JM
Publication Date: 2020-10-20

Variant appearance in text: GAA: P669P
PubMed Link: 33082337
Variant Present in the following documents:
  • 41540_2020_Article_151.pdf
View BVdb publication page