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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Fig. 1

Sequencing electropherograms of two novel mutations (novel-1 and novel-2) in the NR1H4 gene. The mutation location is marked with an arrow. For novel-1, Y represents C or T in the same sequence. For novel-2, W represents A or T in the same sequence. Novel-1 mutation from C to T and Novel-2 from A to T occurred at the 434rd and 553rd bases in the CDS region of the NR1H4 gene, respectively. The corresponding amino acids changed from serine (S) to L-phenylalanine (F) in the 145th location and methionine (M) to leucine (L) in the 185th location

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