Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.A744V
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STAT3

NM_139276.3:p.A744V

Associated Papers

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

Asano T et al.

The Journal of Experimental Medicine, 2021

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

An adolescent with marked hyperimmuno-globulinemia E showing minimal change nephrotic syndrome and a STAT3 gene mutation.

Miyazaki K et al.

Clinical Nephrology, 2011

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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."