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Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

19 Dec 2018

Abstract excerpt

PURPOSE: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes. METHODS: Exome sequencing was conducted on 40 unexplained (mainly sporadic) cases with FAP or AFAP from Finland. The DNA mismatch repair (MMR) gene MLH3 (MutL Homolog 3) was...

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PMID: 30573798
DOI: 10.1038/s41436-018-0405-x

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