Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Arg326Cys (p.R326C)
(
ENST00000403665.7 )
F11 p.Ser594Arg (p.S594R) ( ENST00000403665.7 )
F11 p.Arg326Cys (p.R326C) ( ENST00000403665.7 )
F11 p.Ser594Arg (p.S594R) ( ENST00000403665.7 ) - Associated Disease
- factor XI deficiency
- Source Database
- DisGeNET
- Description
- To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency.
- Pubmed
- 10606881
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.586518934375277
- Year of publication
- 1999
Drugs