Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion description "[Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion evidence source_evidence_literature NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion SIO_000772 15949223 NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion wasDerivedFrom befree-2016 NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion wasGeneratedBy ECO_0000203 NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_provenance.