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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 7977366 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.