@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_head { this: np:hasAssertion dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_assertion; np:hasProvenance dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_provenance; np:hasPublicationInfo dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_publicationInfo; a np:Nanopublication . dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_assertion a np:Assertion . dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_provenance a np:Provenance . dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_assertion { miriam-gene:11146 a ncit:C16612 . lld:C0032580 a ncit:C7057 . dgn-gda:DGNb47ea13a83acb772aabc80a38c502eed sio:SIO_000628 miriam-gene:11146, lld:C0032580; a sio:SIO_001122 . } dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_provenance { dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_assertion dcterms:description "[In summary, these studies have demonstrated the following: 1) plasma TTR levels are significantly decreased in Portuguese patients with FAP; 2) FAP-TTR is indistinguishable from normal TTR with regard to a wide range of physiochemical properties; 3) RBP levels and vitamin A transport appear to be normal in FAP patients; 4) an abnormal TTR with a methionine for valine substitution at position 30 is found as amyloid protein in tissues of patients with FAP; and 5) this abnormal TTR is present in small amounts in plasma of patients with FAP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:6208668; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1305161.RAHadHY8JUUUcj5gJO9GohrB6BYP80xNUKH8ylY6kRWzs130_publicationInfo { this: dcterms:created "2016-05-13T12:51:37+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }