Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.C158_R161Fs
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STXBP2

NM_006949.4:p.C158_R161Fs

Associated Papers

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Pantea CL et al.

Scientific Reports, 2025

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

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.

Lucchini G et al.

Blood, 2018

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S et al.

International Journal of Hematology, 2018

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Maffucci P et al.

Frontiers in Immunology, 2016

Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.

Saltzman RW et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."