Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_assertion type Assertion NP498889.RAFHxQuc6bdqlurS1PQLY091bJpw1xN-Y0RX9YY8ruO2Q130_head.
- 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.