Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- befree-2016 importedOn "2016-02-19" NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_assertion wasGeneratedBy ECO_0000203 NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_assertion wasDerivedFrom befree-2016 NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_assertion SIO_000772 7977366 NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_assertion evidence source_evidence_literature NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.
- NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_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." NP1328843.RAyF_8TCCNVWJdBhhMZgexD--ZzWjRSJkkU9ahux32xhw130_provenance.