Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.R272*
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IKBKB

NM_001556.3:p.R272*

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

Gain-of-function IKBKB mutation causes human combined immune deficiency.

Cardinez C et al.

The Journal of Experimental Medicine, 2018

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Gobin K et al.

Frontiers in Pediatrics, 2017

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

Senegas A et al.

Cellular and Molecular Life Sciences : Cmls, 2015

Immunodeficiency associated with a nonsense mutation of IKBKB.

Nielsen C et al.

Journal of Clinical Immunology, 2014

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