Congenital nephrotic syndrome type 12 is an autosomal recessive disorder caused by mutations of the NUP93 gene.
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Braun DA et al. (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. ![]() |
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OMIM.ORG article Omim 616892![]() |