Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.I719insFs
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IL6ST

NM_002184.4:p.I719insFs

Associated Papers

Co-Existence of IL6ST and MEFV Pathogenic Variant in a Patient With Hyper-IgE Syndrome.

Kose H et al.

Immunology, 2026

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

Kose H et al.

Frontiers in Immunology, 2026

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."