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  • Human STXBP2 wild-type allele is located within 19p13.3-p13.2 and is approximately 11 kb in length. This allele, which encodes syntaxin-binding protein 2, plays a role in intracellular vesicle trafficking and vesicle fusion with membranes. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 5.
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