. . . . . . . . . . . . "[This complicated the diagnostic workup until homozygosity scan revealed a novel mutation in EIF2B2.This report widens the clinical spectrum of VWMD and raises the possibility of an allele-specific association with adrenal insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-27"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:45:51+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .