Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.A867fs
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NFKB2

NM_001322934.2:p.A867fs

Associated Papers

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

Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.

Nasomyont N et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA et al.

Frontiers in Pediatrics, 2015

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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."