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Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

2021-04-28

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<h4>ABSTRACT</h4> Inherited defects in base-excision repair (BER) predispose to adenomatous polyposis and colorectal cancer (CRC), yet our understanding of this important DNA repair pathway remains incomplete. By combining detailed clinical, histological and molecular profiling, we reveal biallelic germline loss-of-function (LOF) variants in the BER gene MBD4 to predispose to adenomatous polyposis and –uniquely...

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Literature Corpus work: 6f532564-f884-54c0-9e20-5c99963a9e42
DOI: 10.1101/2021.04.27.441137

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Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemiaDOI 10.1101/2021.04.27.441137Read

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Germline loss-of-function variants in the base-excision repair gene <i>MBD4</i> cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

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