Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.Q348*
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IKBKG

NM_001099857.5:p.Q348*

Associated Papers

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

Wang J et al.

Genes & Diseases, 2025

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 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."