Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.G380Splc
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STAT3

NM_139276.3:p.G380Splc

Associated Papers

STAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.

Andreani V et al.

Science Advances, 2025

Infections in Inborn Errors of STATs.

Wang C et al.

Pathogens (basel, Switzerland), 2024

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

Clinical Profile of Hyper-IgE Syndrome in India.

Saikia B et al.

Frontiers in Immunology, 2021

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

Natarajan M et al.

The Journal of Allergy and Clinical Immunology, 2018

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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."