Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.Y657*
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STAT3

NM_139276.3:p.Y657*

Associated Papers

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

Andreani V et al.

Science Advances, 2025

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

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

Asano T et al.

The Journal of Experimental Medicine, 2021

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Khourieh J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis.

Tavassoli M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

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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."