Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.W283*
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IKBKB

NM_001556.3:p.W283*

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

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Al-Shamsi A et al.

Orphanet Journal of Rare Diseases, 2016

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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."