. . . . . . . "[Second, we provided a detailed description of clinical findings in three unrelated MFS families in which an FBN1 mutation was identified and which demonstrate striking intrafamilial phenotypic variability as another illustration of the absence of genotype/phenotype correlations in MFS.]. 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 . "2017-10-17T13:12:39+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .