@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:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_head { this: np:hasAssertion dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_assertion; np:hasProvenance dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_provenance; np:hasPublicationInfo dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_publicationInfo; a np:Nanopublication . dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_assertion a np:Assertion . dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_provenance a np:Provenance . dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_assertion { miriam-gene:11146 a ncit:C16612 . lld:C2751492 a ncit:C7057 . dgn-gda:DGN8f960c2276a24da775adefdd4c86a0c1 sio:SIO_000628 miriam-gene:11146, lld:C2751492; a sio:SIO_001121 . } dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_provenance { dgn-np:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_assertion dcterms:description "[The purpose of this study is to develop an early diagnostic method for familial amyloidotic polyneuropathy (FAP) before clinical manifestations appear around the age of 30 yr. Amyloid fibrils isolated from type I FAP (FAP1) of Portuguese, Swedish, and Japanese origins consist of a variant transthyretin (TTR) that contains a methionine-for-valine substitution at position 30 or a mixture of normal TTR and this variant form.]. 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:3457802; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP203982.RATJlh7KbpU8oBpD-l2Jz7IcT5gcRnBcYzfW1Wl3GXzwQ130_publicationInfo { this: dcterms:created "2014-10-02T12:33:52+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }