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  • Human HOXD13 wild-type allele is located in the vicinity of 2q31.1 and is approximately 3 kb in length. This allele, which encodes homeobox protein Hox-D13, is involved in transcriptional regulation. Mutation of the gene is associated with congenital limb and appendage abnormalities and VACTERL (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects).
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