F8 c.3167del ;(p.T1056Mfs*6)

Variant ID: X-154158898-AG-A

NM_000132.3(F8):c.3167del;(p.T1056Mfs*6)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted B-domain deletion restores F8 function in human endothelial cells and mice.

Signal Transduction And Targeted Therapy
Hu, Zhiqing Z; Li, Zhuo Z; Wu, Yong Y; Zhao, Junya J; Wu, Lingqian L; Zhou, Miaojin M; Liang, Desheng D
Publication Date: 2022-06-20

Variant appearance in text: FVIII: 3167del
PubMed Link: 35718817
Variant Present in the following documents:
  • Main text
  • 41392_2022_Article_1016.pdf
View BVdb publication page



ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs.

Molecular Therapy. Nucleic Acids
Hu, Zhiqing Z; Zhou, Miaojin M; Wu, Yong Y; Li, Zhuo Z; Liu, Xionghao X; Wu, Lingqian L; Liang, Desheng D
Publication Date: 2019-09-06

Variant appearance in text: F8: 3167del
PubMed Link: 31261034
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page