Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.E25*
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STX11

NM_003764.4:p.E25*

Associated Papers

Genetics of Primary Hemophagocytic Lymphohistiocytosis.

Karageorgos S et al.

Advances in Experimental Medicine and Biology, 2024

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.

Sultanova AK et al.

Annals of Laboratory Medicine, 2016

Analysis of familial hemophagocytic lymphohistiocytosis type 4 (FHL-4) mutant proteins reveals that S-acylation is required for the function of syntaxin 11 in natural killer cells.

Hellewell AL et al.

Plos One, 2014

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.

Marsh RA et al.

Pediatric Blood & Cancer, 2010

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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."