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- B5550693a944814ef5e0d32474b155c13 NCIT_P378 "NCI" @default.
- B5550693a944814ef5e0d32474b155c13 NCIT_P381 "UniProt" @default.
- B5550693a944814ef5e0d32474b155c13 type Axiom @default.
- B5550693a944814ef5e0d32474b155c13 annotatedProperty IAO_0000115 @default.
- B5550693a944814ef5e0d32474b155c13 annotatedSource NCIT_C52145 @default.
- B5550693a944814ef5e0d32474b155c13 annotatedTarget "Human PAX3 wild-type allele is located within 2q35-q37 and is approximately 99 kb in length. This allele, which encodes paired box gene Pax-3 protein, plays a role in transcriptional regulation that is critical for fetal development. Mutations in this gene are associated with Waardenburg syndrome, and craniofacial-deafness-hand syndrome. Also, mutations or translocations involving the gene are associated with alveolar rhabdomyosarcoma. The rhabdomyosarcoma-related PAX3 gene translocations include t(2;13)(q35;q14) with the FOXO1 gene and t(2;2)(q35;p23) with the NCOA1 gene." @default.