Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.Q117_T118del1
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STAT3

NM_139276.3:p.Q117_T118del1

Associated Papers

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.

Yaakoubi R et al.

Frontiers in Immunology, 2025

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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."