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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFKBIA

Variant:p.I265insFs

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NFKBIA

NM_020529.3:p.I265insFs

hg38:chr14:35402506 A>AT

Associated Papers

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Ohnishi H et al.

Journal of Clinical Immunology, 2017

28702714 (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."