Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.K324R
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STXBP2

NM_006949.4:p.K324R

Associated Papers

Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.

Park JE et al.

Frontiers in Pediatrics, 2022

36440336 (PubMed )
Supplement: Datasheet1.pdf

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.

Chen X et al.

Clinical Genetics, 2018

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