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  • Molecular assay reagents intended to identify deletions or duplications of the fibrillin 1 (FBN1) gene, located at chromosome 15q21.1, which encodes the protein fibrillin-1. Genetic variants at this locus have been associated with Marfan lipodystrophy syndrome, geleophysic dysplasia, Weill-Marchesani syndrome, stiff skin syndrome, MASS syndrome, isolated ectopia lentis, acromicric dysplasia, and Marfan syndrome.
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