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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

Fig. 2

Somatic mutations of the tumors and cysts. a Somatic mutations of the tumors in causative genes. b Mutation numbers of each sample. The numbers above each bar indicate the number of mutations. c A Venn diagram illustrating the mutation genes in the BCCs (green), cysts (blue), and OKC (yellow). The numbers indicate the total mutations in each group. d A Venn diagram illustrating the mutation genes in each BCC. The numbers indicate the total number of mutations in each BCC. The mutations of the genes indicated on the right indicate the associations between BCC4 and BCC5 as well as BCC4 and BCC7. e A list of Gene Ontology enrichment terms with P-values above 0.05 in the additional mutations. Bold characters indicate relation to cilia components. f A list of genes containing cilia-related GO terms, as shown in e. The number refers to the GO term in e containing the genes. g The conservation of the mutational regions of IFT172. h The wild-type and mutant forms of KIFAP3

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