. . . . . . . "[Taken together, we herein confirm PNPLA6 mutations as the leading cause of Boucher-Neuh�user syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:18:03+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .