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Article

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred

16 Apr 2015

Abstract excerpt

We report a germline nonsense mutation within the extracellular domain of the RING finger ubiquitin ligase RNF43, segregating with a severe form of serrated polyposis within a kindred. The finding provides evidence that inherited RNF43 mutations define a familial cancer syndrome.

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Identifiers

PMID: 27081527
DOI: 10.1038/hgv.2015.13

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