. . . . . . . "[The high frequency of the E326K substitution observed in patients with GD type 2 suggests that this change may have a modulating negative effect on the clinical condition of these Gaucher disease patients when present in combination with mutation L444P.]. 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 . "2017-10-17T13:12:55+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .