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
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31723249 (PubMed )
Supplement: NIHMS1543809-supplement-Supplementary_data__clean_version_.docx
Gene analysis of inherited antithrombin deficiency and functional analysis of abnormal antithrombin protein (N87D).
Kamijima S et al.
International Journal of Hematology, 2018
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
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