Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.R173Q
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IKBKG

NM_001099857.5:p.R173Q

Associated Papers

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.

Kim HY et al.

Experimental Dermatology, 2021

Structurally plastic NEMO and oligomerization prone IKK2 subunits define the behavior of human IKK2:NEMO complexes in solution.

Ko MS et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020

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

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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."