Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.S32R
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NFKBIA

NM_020529.3:p.S32R

Associated Papers

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Chear CT et al.

Genes, 2022

A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.

Wen W et al.

Genes & Diseases, 2022

IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

Moriya K et al.

Journal of Clinical Immunology, 2018

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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."