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- Bbaa1baa578d83c972d6c9f48b084098f hasDbXref "https://clinicalgenome.org/affiliation/40023/" @default.
- Bbaa1baa578d83c972d6c9f48b084098f type Axiom @default.
- Bbaa1baa578d83c972d6c9f48b084098f annotatedProperty IAO_0000115 @default.
- Bbaa1baa578d83c972d6c9f48b084098f annotatedSource MONDO_0100502 @default.
- Bbaa1baa578d83c972d6c9f48b084098f annotatedTarget "Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer." @default.