Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.H356_K358del0
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STXBP2

NM_006949.4:p.H356_K358del0

Associated Papers

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Meeths M et al.

Blood, 2010

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