GAA c.813del ;(p.S272Afs*42)

Variant ID: 17-78081474-AC-A

NM_000152.3(GAA):c.813del;(p.S272Afs*42)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

Bmc Medical Genetics
Li, Xin-Hua XH; Lu, Yi Y; Ling, Yun Y; Fu, Qing-Chun QC; Xu, Jie J; Zang, Guo-Qing GQ; Zhou, Feng F; De-Min, Yu Y; Han, Yue Y; Zhang, Dong-Hua DH; Gong, Qi-Ming QM; Lu, Zhi-Meng ZM; Kong, Xiao-Fei XF; Wang, Jian-She JS; Zhang, Xin-Xin XX
Publication Date: 2011-01-11

Variant appearance in text: GAA: 813delC
PubMed Link: 21219664
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-6.pdf
View BVdb publication page