Fig. 2 | Scientific Reports

Fig. 2

From: Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3

Fig. 2The alternative text for this image may have been generated using AI.

Sequencing of the ABCB4 Gene in Two Patients and Their Families. (A) C.3136G > T (p.R1046X) site in Patient 1 and their parents. (B) C.904G > T (p.G302C) site in Patient 1 and their parents. (C) C.1230 + 1G > A (splicing) and C.2493G > C (p.R831S) sites in Patient 2, their parents, their fraternal twin brother, and their younger brother.

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