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Table 1 The summary of the novel mutations in PKD1 gene in this patient with congenital hepatic fibrosis

From: Congenital hepatic fibrosis with novel mutations in PKD1 gene masquerading as early cryptogenic cirrhosis: a rare case report

Gene Exon location Nucleotide change Amino acid change Zygosity
PKD 1 Exon 15 c.6223C>T p.Arg2075Cys Heterozygous
PKD 1 Exon 11 c.2534T>C p.Leu845Ser Heterogenous