Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.Y705C
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STAT3

NM_139276.3:p.Y705C

Associated Papers

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential.

Meixner I et al.

Orphanet Journal of Rare Diseases, 2020

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Chaimowitz NS et al.

Frontiers in Pediatrics, 2019

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.

Meyer-Bahlburg A et al.

The Journal of Allergy and Clinical Immunology, 2012

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.

Al Khatib S et al.

The Journal of Allergy and Clinical Immunology, 2009

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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."