Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.D306N
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IKBKG

NM_001099857.5:p.D306N

Associated Papers

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

Wang J et al.

Genes & Diseases, 2025

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.

Mou W et al.

Journal of Clinical Immunology, 2023

NEMO Links Nuclear Factor-κB to Human Diseases.

Maubach G et al.

Trends in Molecular Medicine, 2017

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C et al.

Blood, 2017

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

Ramírez-Alejo N et al.

Clinical Immunology (orlando, Fla.), 2015

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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."