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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IRF2BP2

Variant:p.C555S

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IRF2BP2

NM_182972.3:p.C555S

hg38:chr1:234607238 A>T

Associated Papers

Case Report: Novel IRF2BP2 variant in a Japanese patient with impaired B-cell differentiation, Th1 polarization, and systemic immune dysregulation.

Endo Y et al.

Frontiers in Immunology, 2025

41246352 (PubMed )

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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."