Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.A123_V124delFs
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STX11

NM_003764.4:p.A123_V124delFs

Associated Papers

The opposing effects of two gene defects in STX11 and SLP76 on the disease in a patient with an inborn error of immunity.

Mansour R et al.

The Journal of Allergy and Clinical Immunology, 2023

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

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

Rudd E et al.

Journal of Medical Genetics, 2006

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U et al.

Human Molecular Genetics, 2005

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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."