Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.R230K
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NFKB1

NM_003998.4:p.R230K

Associated Papers

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.

Fliegauf M et al.

Frontiers in Immunology, 2022

36105815 (PubMed )
Supplement: DataSheet_1.pdf

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

Li J et al.

The Journal of Experimental Medicine, 2021

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