@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:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_head { this: np:hasAssertion dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_assertion; np:hasProvenance dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_provenance; np:hasPublicationInfo dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_publicationInfo; a np:Nanopublication . dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_assertion a np:Assertion . dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_provenance a np:Provenance . dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_publicationInfo a np:PublicationInfo . } dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_assertion { miriam-gene:7276 a ncit:C16612 . lld:C0235025 a ncit:C7057 . dgn-gda:DGN449402b9d1801787223d930b28e4c973 sio:SIO_000628 miriam-gene:7276, lld:C0235025; a sio:SIO_001122 . } dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_provenance { dgn-np:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_assertion dcterms:description "[DNA sequencing of the TTR gene and amino acid sequence analysis of serum TTR revealed a new mutation in which Gly97 was substituted for Ala. We suggest that patients with somatic sensory and motor neuropathy of unknown origin without apparent autonomic dysfunction should be further studied for TTR mutation.]. 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:8133316; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP761755.RAuuWAVabbiSRAY3S0kEGbXidR0igSkPbPYKU5o5DCep8130_publicationInfo { this: dcterms:created "2015-08-25T14:45:19+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }