Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.H284Y
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IKBKB

NM_001556.3:p.H284Y

Associated Papers

Case Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis.

Arce-Estrada GE et al.

Frontiers in Immunology, 2025

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB.

Alsum Z et al.

Frontiers in Pediatrics, 2020

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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."