. . . . . . . . . . . . "[These novel mutations included one missense substitution D160H and one splice site mutation IVS5+3delAAGT/is the first Chinese case report of oculocutaneous albinism type 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:39:42+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .