Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_assertion> ?p ?o ?g. }
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- NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_assertion type Assertion NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_head.
- NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_assertion wasGeneratedBy ECO_0000203 NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_provenance.
- NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_assertion wasDerivedFrom befree-20140225 NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_provenance.
- NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_assertion SIO_000772 7977366 NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_provenance.
- NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_assertion evidence source_evidence_literature NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_provenance.
- NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_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." NP231093.RADvPkhdC336BIvoU9kMFInCfp97AZKBw3gwUu-aLWlTw130_provenance.