Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.P389_A390insFs
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EDA

NM_001399.5:p.P389_A390insFs

Associated Papers

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

Wang J et al.

Genes & Diseases, 2025

Inherited disorders of human Toll-like receptor signaling: immunological implications.

Ku CL et al.

Immunological Reviews, 2005

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R et al.

Nature Genetics, 2001

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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."