Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_assertion description "[Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_assertion evidence source_evidence_literature NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_assertion SIO_000772 21858451 NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_assertion wasDerivedFrom befree-2016 NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_assertion wasGeneratedBy ECO_0000203 NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.
- befree-2016 importedOn "2016-02-19" NP918453.RA-ByTW9ggn4U6HxbPz2QPNV5YKDi2P_qwTRQPG2zReOc130_provenance.