. . . . . . . . . . . . "[We have refined the critical region on chromosome 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, that is mutated in patients with Cohen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2013-07-24"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2014-10-02T12:32:14+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .