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Human EWSR1 wild-type allele is located in the vicinity of 22q12.2 and is approximately 32 kb in length. This allele, which encodes RNA-binding protein EWS, may play a role in transcriptional repression or post-translational modification. An exact function has not been elucidated; however, mutations of the gene are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. The most common aberration that has been identified is a t(11;22)(q24;q12) translocation.
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