Article

APC Splicing Mutations Leading to In-Frame Exon Skipping are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

2021-01-04

Abstract excerpt

Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene APC. To date, nearly 2000 APC mutations have been described in FAP, most of which are predicted to result in truncated protein products. Mutations leading to aberrant APC splicing have rarely been reported. Here, we characterized a novel germline heterozygous splice donor site mutation in APC exon 12 (NM_000038.5: c.1...

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Literature Corpus work: 6dec9b16-a0e4-528c-8b46-cec82b887768
DOI: 10.20944/preprints202101.0023.v1

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