Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.N291fs
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NFKB1

NM_003998.4:p.N291fs

Associated Papers

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

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

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