Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.Q432K
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STXBP2

NM_006949.4:p.Q432K

Associated Papers

Secondary Leukemia in a Patient With EBV-HLH Carrying Heterozygous STXBP2 Variant.

Liao M et al.

Journal of Pediatric Hematology/oncology, 2022

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

Meeths M et al.

Experimental Cell Research, 2014

Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations.

Machaczka M et al.

Haematologica, 2013

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."