Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.K289E
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NPHS2

NM_014625.4:p.K289E

Associated Papers

A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin.

Wu N et al.

Genes & Genomics, 2022

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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."