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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFKBIA

Variant:p.S32C

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NFKBIA

NM_020529.3:p.S32C

hg38:chr14:35404551 T>A

Associated Papers

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Chear CT et al.

Genes, 2022

36292785 (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."