Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.R534H
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NFKB1

NM_003998.4:p.R534H

Associated Papers

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Azzarà A et al.

Plos One, 2022

Genetic Variants and Immune Responses in a Cohort of Patients With Varicella Zoster Virus Encephalitis.

Thomsen MM et al.

The Journal of Infectious Diseases, 2021

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

Li J et al.

The Journal of Experimental Medicine, 2021

High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia.

Sogkas G et al.

Annals of the Rheumatic Diseases, 2021

Histaminergic transmission slows progression of amyotrophic lateral sclerosis.

Apolloni S et al.

Journal of Cachexia, Sarcopenia and Muscle, 2019

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Tuijnenburg P et al.

The Journal of Allergy and Clinical Immunology, 2018

Genome-wide association study of treatment refractory schizophrenia in Han Chinese.

Liou YJ et al.

Plos One, 2012

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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."