Health / Medical Topics |
CNTNAP2 wt Allele
Human CNTNAP2 wild-type allele is located within 7q35-q36 and is approximately 2305 kb in length. This allele, which encodes contactin associated protein-like 2, may play a role in axonal organization. Mutations in this gene are associated with cortical dysplasia-focal epilepsy syndrome and may be involved in autism and the DFNB13 form of nonsyndromic deafness. (NCI Thesaurus)
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