GAA c.518T>A ;(p.M173K)

Variant ID: 17-78078903-T-A

NM_000152.3(GAA):c.518T>A;(p.M173K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine
Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y
Publication Date: 2022-06

Variant appearance in text: GAA: 518T>A
PubMed Link: 35665479
Variant Present in the following documents:
  • CTM2-12-e843.pdf
View BVdb publication page