Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.T337_G338delFs
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STAT1

NM_007315.4:p.T337_G338delFs

Associated Papers

Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.

López-Nevado M et al.

Journal of Clinical Immunology, 2023

DNA sensing via the cGAS/STING pathway activates the immunoproteasome and adaptive T-cell immunity.

Wang X et al.

The Embo Journal, 2023

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.

Ye F et al.

Frontiers in Cellular and Infection Microbiology, 2022

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Le Voyer T et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.

Boehmer DFR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2020

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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."