Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.A506fs
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NFKB1

NM_003998.4:p.A506fs

Associated Papers

Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.

Fathi N et al.

Journal of Clinical Immunology, 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

Advances and highlights in primary immunodeficiencies in 2017.

Chinen J et al.

The Journal of Allergy and Clinical Immunology, 2018

NFKB1 regulates human NK cell maturation and effector functions.

Lougaris V et al.

Clinical Immunology (orlando, Fla.), 2017

Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

Hoeger B 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."