Article

Phenotype correlations with pathogenic DNA variants in the<i>MUTYH</i>gene

2024-05-15

Abstract excerpt

MUTYH -associated polyposis (MAP) is an autosomal recessive disorder where the inheritance of constitutional biallelic pathogenic MUTYH variants predisposes a person to the development of adenomas and colorectal cancer (CRC). It is also associated with extracolonic and extraintestinal manifestations that may overlap with the phenotype of familial adenomatous polyposis (FAP). Currently, there are discrepancies in t...

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Literature Corpus work: 7059124a-3303-555f-b3fa-b99bc6dc9895
DOI: 10.1101/2024.05.15.24307143

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