GAA c.2304dup ;(p.T771Hfs*25)

Variant ID: 17-78090877-T-TC

NM_000152.3(GAA):c.2304dup;(p.T771Hfs*25)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 2303dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: 2304dupC
PubMed Link: 21219664
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-6.pdf
View BVdb publication page