Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.Q401*
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IKBKG

NM_001099857.5:p.Q401*

Associated Papers

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Fusco F et al.

International Reviews of Immunology, 2015

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F et al.

Human Mutation, 2008

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

Filipe-Santos O et al.

The Journal of Experimental Medicine, 2006

Inherited disorders of human Toll-like receptor signaling: immunological implications.

Ku CL et al.

Immunological Reviews, 2005

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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."