Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.A169P
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IKBKG

NM_001099857.5:p.A169P

Associated Papers

Clinical relevance of loss-of-function mutations of NEMO/IKBKG.

Wang J et al.

Genes & Diseases, 2025

A Central Region of NF-κB Essential Modulator Is Required for IKKβ-Induced Conformational Change and for Signal Propagation.

Shaffer R et al.

Biochemistry, 2019

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

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2012

Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.

Mizukami T et al.

Journal of Clinical Immunology, 2012

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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."