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- Bdce9b131e23eafb46ca37703c84afaf3 NCIT_P378 "NCI" @default.
- Bdce9b131e23eafb46ca37703c84afaf3 type Axiom @default.
- Bdce9b131e23eafb46ca37703c84afaf3 annotatedProperty IAO_0000115 @default.
- Bdce9b131e23eafb46ca37703c84afaf3 annotatedSource NCIT_C200380 @default.
- Bdce9b131e23eafb46ca37703c84afaf3 annotatedTarget "Human CTDP1 wild-type allele is located in the vicinity of 18q23 and is approximately 80 kb in length. This allele, which encodes RNA polymerase II subunit A C-terminal domain phosphatase protein, is involved in dephosphorylation of RNA polymerase II subunit A (POLR2A), which upregulates POLR2A activity. Mutation of the gene is associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN)." @default.