Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.Y657delFs
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STAT3

NM_139276.3:p.Y657delFs

Associated Papers

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

Andreani V et al.

Science Advances, 2025

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

Asano T et al.

The Journal of Experimental Medicine, 2021

34137790 (PubMed )
Supplement: JEM_20202592_TableS2.xlsx › Table_S1

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."