Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.D31A
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NFKBIA

NM_020529.3:p.D31A

Associated Papers

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Schimke LF et al.

Journal of Clinical Immunology, 2013

Molecular dissection of the interactions among IkappaBalpha, FWD1, and Skp1 required for ubiquitin-mediated proteolysis of IkappaBalpha.

Hattori K et al.

The Journal of Biological Chemistry, 1999

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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."