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- Bf83c5b6f6238c7dd8321b49b4c7168db NCIT_P378 "NCI" @default.
- Bf83c5b6f6238c7dd8321b49b4c7168db NCIT_P381 "UniProt" @default.
- Bf83c5b6f6238c7dd8321b49b4c7168db type Axiom @default.
- Bf83c5b6f6238c7dd8321b49b4c7168db annotatedProperty IAO_0000115 @default.
- Bf83c5b6f6238c7dd8321b49b4c7168db annotatedSource NCIT_C75892 @default.
- Bf83c5b6f6238c7dd8321b49b4c7168db 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.