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  • Human GDF3 wild-type allele is located in the vicinity of 12p13.1 and is approximately 6 kb in length. This allele, which encodes growth/differentiation factor 3 protein, plays a role in cellular differentiation in embryogenesis and during maturation. Mutation of the gene is associated with Klippel-Feil syndrome type 3, microphthalmia isolated with coloboma type 6 and microphthalmia isolated type 7.
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