Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.Y868C
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NFKB2

NM_001322934.2:p.Y868C

Associated Papers

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.

Baran A et al.

Journal of Clinical Immunology, 2024

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

Fathi N et al.

Journal of Clinical Immunology, 2024

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.

Wirasinha RC et al.

The Journal of Experimental Medicine, 2021

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

Kuehn HS et al.

Journal of Clinical Immunology, 2020

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.

Klemann C et al.

Frontiers in Immunology, 2019

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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."