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- Bd6a479fa5ae65625288a8d307f883b71 hasDbXref "https://clinicalgenome.org/affiliation/40023/" @default.
- Bd6a479fa5ae65625288a8d307f883b71 type Axiom @default.
- Bd6a479fa5ae65625288a8d307f883b71 annotatedProperty IAO_0000115 @default.
- Bd6a479fa5ae65625288a8d307f883b71 annotatedSource MONDO_0100502 @default.
- Bd6a479fa5ae65625288a8d307f883b71 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.