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09/16/2022

Variability in phenotype induced by podocin variant R229Q plus a single pathogenic mutation

Genomic DNA was extracted from whole blood samples or saliva using standard methods. Mutation analysis was performed by direct sequencing of all eight exons of NPHS2, and the mutation bearing exons 8 and 9 of WT1 using exon-flanking primers. All mutations were confirmed with sequencing of the complementary strands. All sequences were analyzed using the Sequencher software package (Gene Codes Corp, Ann Arbor, MI).

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Variability in phenotype induced by podocin variant R229Q plus a single pathogenic mutation

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Variability in phenotype induced by podocin variant R229Q plus a single pathogenic mutation

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