Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.R190C
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STXBP2

NM_006949.4:p.R190C

Associated Papers

Neonatal hemophagocytic lymphohistiocytosis: A meta-analysis of 205 cases.

Kranz LA et al.

Pediatric Blood & Cancer, 2024

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

Liao M et al.

Journal of Pediatric Hematology/oncology, 2022

A Rare STXBP2 Mutation in Severe COVID-19 and Secondary Cytokine Storm Syndrome.

Reiff DD et al.

Life (basel, Switzerland), 2022

Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.

Yang Y et al.

Medicine, 2021

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2021

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA et al.

Frontiers in Immunology, 2021

STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.

Benavides N et al.

Frontiers in Immunology, 2020

Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.

Hospach T et al.

Pediatric Rheumatology Online Journal, 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."