TG c.719dup ;(p.S240Rfs*8)

Variant ID: 8-133894187-A-AG

NM_003235.4(TG):c.719dup;(p.S240Rfs*8)

This variant was identified in 3 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: TG: 719dupG
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

Plos One
Tang, Liang L; Guo, Tao T; Yang, Rui R; Mei, Heng H; Wang, Huafang H; Lu, Xuan X; Yu, Jianming J; Wang, Qingyun Q; Hu, Yu Y
Publication Date: 2012

Variant appearance in text: TG: 719dupG
PubMed Link: 22545135
Variant Present in the following documents:
  • Main text
  • pone.0035773.pdf
View BVdb publication page



Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Molecular Vision
Huang, Kristen M KM; Wu, Junhua J; Brooks, Simon P SP; Hardcastle, Alison J AJ; Lewis, Richard Alan RA; Stambolian, Dwight D
Publication Date: 2007-03-27

Variant appearance in text: TG: 718insG
PubMed Link: 17417607
Variant Present in the following documents:
  • Main text
View BVdb publication page