Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.C88R
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NFKB1

NM_003998.4:p.C88R

Associated Papers

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

Li J et al.

The Journal of Experimental Medicine, 2021

Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome.

Dickie LJ et al.

Annals of the Rheumatic Diseases, 2012

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

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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."