Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.

Refitting the mutational spectra to this fixed number of signatures in each sample revealed a highly significant presence of the Polδ proofreading deficiency signature SBS10c in all four POLD1 L474P heterozygotes but not in the wildtype cell lines (Fig. 2B , Supplementary Table S3 ).

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