Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.R173Splc
Back to variants list

IKBKG

NM_001099857.5:p.R173Splc

Associated Papers

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."