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  • Human SMARCB1 wild-type allele is located in the vicinity of 22q11.2 and is approximately 48 kb in length. This allele, which encodes SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1 protein, plays a role in both the promotion of transcriptional activity and the modification of chromatin structure. The gene is mutated in malignant rhabdoid tumors and many epithelioid sarcomas.
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