Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.H413R
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IKBKG

NM_001099857.5:p.H413R

Associated Papers

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

Wang J et al.

Genes & Diseases, 2025

Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.

Staudacher O et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis.

Jimi E et al.

International Journal of Molecular Sciences, 2022

NEMO Links Nuclear Factor-κB to Human Diseases.

Maubach G et al.

Trends in Molecular Medicine, 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."