Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.G384S
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STAT1

NM_007315.4:p.G384S

Associated Papers

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.

Yaz I et al.

Journal of Clinical Immunology, 2025

Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

Yamazaki Y et al.

Journal of Immunology (baltimore, Md. : 1950), 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."