Article

From Subtle to Severe: Multiple Mechanisms Impair POLE and POLD1 Function leading to Distinct Effects on Mutation Rates

2024-06-14

Abstract excerpt

<title>Abstract</title> <p>Background POLE and POLD1 are DNA polymerase proteins crucial for maintaining genome integrity during replication. While several drivers leading to <italic>POLE</italic> and <italic>POLD1</italic> proofreading deficiency (PPD) have been identified, the complete set of variants causing PPD is not fully established. This study aims to identify new variants that contribute to PPD by analy...

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Literature Corpus work: 69e13fe3-1d2d-52a3-84f1-643c1a7c6333
DOI: 10.21203/rs.3.rs-4507024/v1

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