Varaico: Literature-Extracted Genetic Variants

Gene:NUP98
Variant:p.Y831S
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NUP98

NM_016320.5:p.Y831S

Associated Papers

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

Miyake N et al.

American Journal of Human Genetics, 2015

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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."