Article

Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells

2022-07-21

Abstract excerpt

<h4>ABSTRACT</h4> Mutational processes in germline and in somatic cells are vastly different, and it remains unclear how the same genetic background affects somatic and transmissible mutations. Here, we estimate the impact of an inherited pathogenic variant in the exonuclease domain of polymerase delta (Polδ) on somatic and germline mutational processes and cancer development. In germline cells and in non-cancer...

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Literature Corpus work: 8c220da4-1322-560d-a132-84a4af915aa0
DOI: 10.1101/2022.07.20.500591

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