Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.Y107*
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IKBKB

NM_001556.3:p.Y107*

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

IKK-related genetic diseases: probing NF-κB functions in humans and other matters.

Senegas A et al.

Cellular and Molecular Life Sciences : Cmls, 2015

A nonsense mutation in IKBKB causes combined immunodeficiency.

Mousallem T et al.

Blood, 2014

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Burns SO et al.

The Journal of Allergy and Clinical Immunology, 2014

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