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Figure 1: Pedigree of a family with a NPHS2 mutation. Chromatogram of DNA sequence of NPHS2 exon 1 – c.211C>T; p.R71X. (I) Parents were identified to be heterozygous carriers for c.211C>T; p.R71X variant. (II) The siblings were identified to have the homozygous missense mutation c.211C>T, resulting in a termination codon p.R71X |
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