Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.V713M
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STAT3

NM_139276.3:p.V713M

Associated Papers

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Delayed diagnosis of hyperimmunoglobulin E syndrome with STAT3 mutation in mainland China: a case report and literature review.

Fang J et al.

The Journal of International Medical Research, 2021

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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

Chaimowitz NS et al.

Frontiers in Pediatrics, 2019

Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?

de Silva R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018

Risk Factors for Disseminated Coccidioidomycosis, United States.

Odio CD et al.

Emerging Infectious Diseases, 2017

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Bocchini CE et al.

Blood, 2016

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

Chandesris MO et al.

Medicine, 2012

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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."