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Human EZHIP wild-type allele is located in the vicinity of Xp11.22 and is approximately 2 kb in length. This allele, which encodes EZH inhibitory protein, plays a role in the modulation of histone H3-K27 methylation. A fusion of this gene and the MBTD1 gene may be associated with low-grade endometrial stromal sarcomas.
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