. . . . . . . . . . . . "[FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS, called type-1 fibrillinopathies. In 1995, in an effort to standardize the information regarding these mutations and to facilitate their mutational analysis and identification of structure/function and phenotype/genotype relationships, we created a human FBN1 mutation database, UMD-FBN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:44:49+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .