Associated Papers
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
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
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J et al.
Blood, 2012
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
Meeths M et al.
Blood, 2010
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V et al.
Journal of Medical Genetics, 2010
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U et al.
American Journal of Human Genetics, 2009
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