Fig. 3 | Scientific Reports

Fig. 3

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

Fig. 3The alternative text for this image may have been generated using AI.

Sequencing of the ABCB4 Gene in Two Patients and Their Families. (A) Gender distribution of patients. (B) zygosity analysis of patients. (C) Proportion of variant types in patients. (D) Distribution of age at onset among patients. (E) Comparative analysis of exon and intron variation frequencies. (F) Age at onset by gender. (G) Age at onset by zygosity. Confusion matrix heatmap of variant sites across four age intervals in the (H) training set and (I) test sets. (J) Performance evaluation of the random forest classification model in the training and test sets. (K) Random forest model analysis of the importance of variant site localization.

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