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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23263490 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The variants associated with susceptibility, POLE p.Leu424Val and POLD1 p.Ser478Asn, have high penetrance, and POLD1 mutation was also associated with endometrial cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.