APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene . To date, nearly 2000 mutations have been described in FAP, most of which are predicted to result in truncated protein products. Mutations leading to aberrant splicing have rarely been reported. Here,...

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