DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

References

Pagel J, Beutel K, Lehmberg K. , et al.
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

Blood 2012;
119 (25) 6016-6024

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