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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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