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Egyptian Liver Journal

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

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