Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.I553M
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NFKB1

NM_003998.4:p.I553M

Associated Papers

[Monogenic and acquired autoinflammatory diseases].

Szekanecz Z et al.

Orvosi Hetilap, 2024

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.

Nakatani N et al.

Human Genome Variation, 2024

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

Li J et al.

The Journal of Experimental Medicine, 2021

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.

Fliegauf M et al.

Frontiers in Immunology, 2021

Advances and highlights in primary immunodeficiencies in 2017.

Chinen J et al.

The Journal of Allergy and Clinical Immunology, 2018

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.

Kaustio M et al.

The Journal of Allergy and Clinical Immunology, 2017

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.

Selenius JS et al.

Frontiers in Immunology, 2017

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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."