Varaico: Literature-Extracted Genetic Variants

Gene:NUP133
Variant:p.D1111_G1112insVFI
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NUP133

NM_018230.3:p.D1111_G1112insVFI

Associated Papers

NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.

Rogg M et al.

Cells, 2022

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

Fujita A et al.

Annals of Neurology, 2018

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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."