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The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
- Source :
- Blood; December 2023, Vol. 142 Issue: 24 p2055-2068, 14p
- Publication Year :
- 2023
-
Abstract
- •Rare variants causal of recessive hemostasis disorders have clinical consequences in carriers.•Common variants modify these consequences and are one of the reasons for different phenotypic expressivity.
Details
- Language :
- English
- ISSN :
- 00064971 and 15280020
- Volume :
- 142
- Issue :
- 24
- Database :
- Supplemental Index
- Journal :
- Blood
- Publication Type :
- Periodical
- Accession number :
- ejs63965262
- Full Text :
- https://doi.org/10.1182/blood.2023020118