Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.S754*
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IL6ST

NM_002184.4:p.S754*

Associated Papers

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

Ashihara K et al.

Jci Insight, 2025

Cytokine signaling defects in primary atopic diseases-an updated review.

Thakur V et al.

Frontiers in Allergy, 2025

An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect.

Basu S et al.

Journal of Clinical Immunology, 2024

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

Arlabosse T et al.

Journal of Clinical Immunology, 2023

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V et al.

The Journal of Experimental Medicine, 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."