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Fig. 3 | Genome Medicine

Fig. 3

From: Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes

Fig. 3

Extension of the experimental process to the functional evaluation of POLE variants. A Functional score evaluation following the CRISPR-Cas9 editing and NGS sequencing of POLE variants of unknown significance, and comparison with the scores obtained for two benign and two pathogenic mutations. B Table comparing the calculated functional scores of POLE variants and ClinVar and OncoKb databases classifications: mutations classified as benign in databases or functionally normal in our assay are shown in green, unreported mutations are shown in yellow, mutations classified as pathogenic in databases or functionally abnormal in our assay are shown in red and intermediate mutations are shown in blue

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