@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:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_head { this: np:hasAssertion dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_assertion; np:hasProvenance dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_provenance; np:hasPublicationInfo dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_publicationInfo; a np:Nanopublication . dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_assertion a np:Assertion . dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_provenance a np:Provenance . dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_publicationInfo a np:PublicationInfo . } dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_assertion { miriam-gene:4137 a ncit:C16612 . lld:C0524851 a ncit:C7057 . dgn-gda:DGN5805b217b32b1019295dcd40bceb4e2d sio:SIO_000628 miriam-gene:4137, lld:C0524851; a sio:SIO_001122 . } dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_provenance { dgn-np:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_assertion dcterms:description "[The microtubule-associated protein tau V363I variation could be considered either an incomplete penetrant mutation or a rare polymorphism; although its pathogenicity has yet to be clearly demonstrated, modifier genetic factors seem to contribute to the pathogenic effects observed in the patient underlining the great complexity existing in neurodegenerative diseases and questioning so-called sporadic cases that can potentially be caused by gene 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:21343707; 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:NP874349.RASaZisaXvnOvhR_xvtyjXs2wKeN4OOXP-Bst2PPWbd9c130_publicationInfo { this: dcterms:created "2016-05-13T12:48:21+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" . }