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- B3c3f752d8b1dd6d14836c6588193ba9a NCIT_P378 "NCI" @default.
- B3c3f752d8b1dd6d14836c6588193ba9a NCIT_P381 "UniProt" @default.
- B3c3f752d8b1dd6d14836c6588193ba9a type Axiom @default.
- B3c3f752d8b1dd6d14836c6588193ba9a annotatedProperty IAO_0000115 @default.
- B3c3f752d8b1dd6d14836c6588193ba9a annotatedSource NCIT_C75892 @default.
- B3c3f752d8b1dd6d14836c6588193ba9a annotatedTarget "Human PITX2 wild-type allele is located within 4q25-q27 and is approximately 25 kb in length. This allele, which encodes pituitary homeobox 2 protein, plays a role in both the modulation of transcription and the regulation of pancreatic development. Mutations in the gene are associated with Rieger syndrome type 1, iridogoniodysgenesis type 2, Peters anomaly, and ring dermoid of cornea." @default.