Associated Papers
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2
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
34473196 (PubMed )
Supplement: JEM_20210566_TableS1.xlsx › Table_S1
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
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