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- B784ae75c6bd7ebe4a5bf79d29002c693 NCIT_P378 "NCI" @default.
- B784ae75c6bd7ebe4a5bf79d29002c693 type Axiom @default.
- B784ae75c6bd7ebe4a5bf79d29002c693 annotatedProperty IAO_0000115 @default.
- B784ae75c6bd7ebe4a5bf79d29002c693 annotatedSource NCIT_C177539 @default.
- B784ae75c6bd7ebe4a5bf79d29002c693 annotatedTarget "An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis." @default.