Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.Q9*
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IKBKG

NM_001099857.5:p.Q9*

Associated Papers

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Boisson B et al.

Journal of Clinical Immunology, 2017

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Schimke LF et al.

Journal of Clinical Immunology, 2013

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."