Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.C158fs
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STXBP2

NM_006949.4:p.C158fs

Associated Papers

Dilemmas in the diagnosis and pathogenesis of atypical late-onset familial haemophagocytic lymphohistiocytosis.

Minson A et al.

Clinical & Translational Immunology, 2021

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

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

Lopez JA et al.

Frontiers in Immunology, 2018

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Maffucci P et al.

Frontiers in Immunology, 2016

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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."