| Health / Medical Topics |
COL18A1 wt Allele
Human COL18A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 109 kb in length. This allele, which encodes collagen alpha-1 (XVIII) chain protein, plays a role in the development of both the neural tube and the retina. Mutations in the gene are associated with Knobloch syndrome. (NCI Thesaurus)
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