Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.K243Q
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NUP93

NM_014669.5:p.K243Q

Associated Papers

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.

Rossanti R et al.

Journal of Human Genetics, 2019

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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."