Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.S57N
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NUP214

NM_005085.4:p.S57N

Associated Papers

Proteasome-associated autoinflammatory syndromes: The impact of mutations in proteasome subunits on particle assembly, structure, and activity.

Huber EM et al.

Structure (london, England : 1993), 2025

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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."