. . . . . . . "[In contrast, SLC17A5 protein harboring the mutations associated with infantile sialic acid storage disease, H183R and ?268SSLRN272 still showed normal levels of ??-driven aspartate and glutamate transport even though H+/sialic acid co-transport activity was absent.]. 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 . "2017-10-17T13:18:20+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .