Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.E110_K111insC
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IKBKG

NM_001099857.5:p.E110_K111insC

Associated Papers

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T et al.

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

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Audry M et al.

The Journal of Allergy and Clinical Immunology, 2011

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.

Hubeau M et al.

Blood, 2011

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Puel A et al.

American Journal of Human Genetics, 2006

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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."