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
Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
Viñas-Giménez L et al.
International Journal of Hematology, 2020
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 2018
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
Seo JY et al.
Clinical Genetics, 2016
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