Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.Q384*
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IKBKG

NM_001099857.5:p.Q384*

Associated Papers

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI et al.

Human Mutation, 2014

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

Fusco F et al.

Human Mutation, 2008

NF-kappaB-related genetic diseases.

Courtois G et al.

Cell Death and Differentiation, 2006

The NF-kappaB signaling pathway in human genetic diseases.

Courtois G

Cellular and Molecular Life Sciences : Cmls, 2005

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F et al.

Human Molecular Genetics, 2004

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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."