Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.Q536ins1
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IRF2BP2

NM_182972.3:p.Q536ins1

Associated Papers

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 2022

IRF2BP2 Mutation Is Associated with Increased STAT1 and STAT5 Activation in Two Family Members with Inflammatory Conditions and Lymphopenia.

Palmroth M et al.

Pharmaceuticals (basel, Switzerland), 2021

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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."