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. 2023 Nov 30;24(23):16999. doi: 10.3390/ijms242316999

Figure 2.

Figure 2

Manhattan analysis of a full dataset from WES and 47,771 RNAseq IDs. Top 12 most significant eQTLs (in terms of changes in expression) specific to patient 5241 case carrying the A360T mutation (A) Distribution of genetic variants among patient’s Exomiser prioritization under noHPO mode indicating 24 SNP IDs shared by patients for 5241 and 7677 cases, among which 19 SNPs were present in RNAseq data (Manhattan) (B). Manhattan plot of 643 SNPs, 5241-specific SNPs, and 19 SNPs defined in (B,C).