Associated Papers
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 › ST3.5
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.
Yuan M et al.
Translational Pediatrics, 2023
36798937 (PubMed )
Supplement: tp-12-01-86-supplementary.pdf
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study.
Brüwer G et al.
Blood Cells, Molecules & Diseases, 2016
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
Protein S levels and the risk of venous thrombosis: results from the MEGA case-control study.
Pintao MC et al.
Blood, 2013
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.
Alhenc-Gelas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Biguzzi E et al.
Human Mutation, 2005
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