. . . . . . . "[studying families with a variant form of Duane's retraction syndrome (DURS2-DRS), causative heterozygous missense mutations in CHN1 were identified; these are gain-of-function mutations that increase alpha2-chimaerin RacGAP activity]. 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 . "2017-10-17T13:11:33+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .