Associated Papers
The genetic spectrum of rare bleeding disorders.
Mohsenian S et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.
Pastoret C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S et al.
Genes, 2023
Analysis of 180 Genetic Variants in a New Interactive FX Variant Database Reveals Novel Insights into FX Deficiency.
Harris VA et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.
Karimi M et al.
Haematologica, 2008
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