. . . . . . . "[Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant number of individuals with a genetic variant of unknown significance without classical FD manifestations; these variants in the ?-galactosidase A gene often result in a high residual leukocyte ?-galactosidase A and it is unclear whether these individuals suffer from FD.]. 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 . "2017-10-17T13:13:00+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .