A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85‐Associated Steroid‐Resistant Nephrotic Syndrome
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DOI: 10.1111/cge.14703
Abstract: Steroid‐resistant nephrotic syndrome (SRNS) is a severe kidney disorder linked to over 60 genes, including NUP85, which plays a key role in nuclear pore function and glomerulogenesis. We identified a novel homozygous NUP85 variant (NM_024844.5:… read more here.
Keywords: nephrotic syndrome; steroid resistant; spectrum nup85; resistant nephrotic ... See more keywords