Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.E88del1
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IKBKG

NM_001099857.5:p.E88del1

Associated Papers

Clinical relevance of loss-of-function mutations of NEMO/IKBKG.

Wang J et al.

Genes & Diseases, 2025

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.

Nishimura M et al.

Frontiers in Immunology, 2025

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles.

Inaba S et al.

Frontiers in Immunology, 2021

Hematopoietic stem cell transplantation for RelB deficiency.

Ovadia A et al.

The Journal of Allergy and Clinical Immunology, 2017

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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."