Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.D311E
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IKBKG

NM_001099857.5:p.D311E

Associated Papers

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

Wang J et al.

Genes & Diseases, 2025

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

Miot C et al.

Blood, 2017

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2012

Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.

Karakawa S et al.

Journal of Clinical Immunology, 2011

Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.

Imamura M et al.

Journal of Clinical Immunology, 2011

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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."