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 › ST3.3
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.
Canault M et al.
International Journal of Molecular Sciences, 2020
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Bastida JM et al.
Seminars in Thrombosis and Hemostasis, 2019
Hereditary platelet function disorder from RASGRP2 gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.
Yun JW et al.
Haematologica, 2019
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK et al.
Blood, 2017
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