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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFKB1

Variant:p.S546Splc

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NFKB1

NM_003998.4:p.S546Splc

hg38:chr4:102600893 A>G

Associated Papers

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.

Staels F et al.

Frontiers in Immunology, 2022

36203612 (PubMed )

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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."