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  • Human COL3A1 wild-type allele is located in the vicinity of 2q32.2 and is approximately 38 kb in length. This allele, which encodes collagen alpha-1(III) chain protein, is involved in collagen formation. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, aortic and arterial aneurysms and lipoblastoma.
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