Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.E380G
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STXBP2

NM_006949.4:p.E380G

Associated Papers

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

Ahmari AA et al.

Blood Research, 2021

Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation.

Baothman A et al.

Cureus, 2019

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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."