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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP214

Variant:p.C186S

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NUP214

NM_005085.4:p.C186S

hg38:chr9:131129441 T>A

Associated Papers

Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.

van de Vosse E et al.

Human Molecular Genetics, 2005

16293671 (PubMed )

[Sodium deficiency caused by Seltin and drugs].

Levin IL

Lakartidningen, 0

17212251 (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."