Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.S415_E416delFs
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STXBP2

NM_001127396.3:p.S415_E416delFs

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

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

Nagai K et al.

Plos One, 2010

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