Health / Medical Topics |
NIPBL wt Allele
Human NIPBL wild-type allele is located in the vicinity of 5p13.2 and is approximately 189 kb in length. This allele, which encodes nipped-B-like protein, plays a role in the mediation of both limb development and cartilage formation. Mutations in the gene are associated with Cornelia de Lange syndrome. (NCI Thesaurus)
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