A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed. However, there are still pathogenic variants that remain unidentified.

Pubmed ID: 33740971