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  1. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

    Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was discovered that

    http://iris.ucl.ac.uk/iris/publication/1583621/1

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