Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_assertion wasGeneratedBy ECO_0000203 NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_assertion wasDerivedFrom befree-2016 NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_assertion SIO_000772 7977366 NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_assertion evidence source_evidence_literature NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.
- NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_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." NP1328844.RAXd3U_24cZwvosVBVF1_e4CPWBiYWX0mKUet0E7jdyaE130_provenance.