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  • Human TGFBR2 wild-type allele is located within 3p22 and is approximately 88 kb in length. This allele, which encodes TGF-beta receptor type-2 protein, plays a role in transcriptional regulation and cellular proliferation control. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors.
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