Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.F384C
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STAT3

NM_139276.3:p.F384C

Associated Papers

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Tar I et al.

Central-european Journal of Immunology, 2023

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Novel mutation in the STAT3 gene in a Chinese boy with hyper-immunoglobulin E syndrome.

Lu Q et al.

The Journal of Dermatology, 2014

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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."