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[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.
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Gene-disease associations inferred from text-mining the literature.
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