Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.R4W
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IRF8

NM_002163.4:p.R4W

Associated Papers

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization.

Chiang SCC 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."