@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:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_head { this: np:hasAssertion dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion; np:hasProvenance dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_provenance; np:hasPublicationInfo dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_publicationInfo; a np:Nanopublication . dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion a np:Assertion . dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_provenance a np:Provenance . dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_publicationInfo a np:PublicationInfo . } dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion { miriam-gene:1786 a ncit:C16612 . lld:C1858804 a ncit:C7057 . dgn-gda:DGN02b44c380972f5166df63f81615cfade sio:SIO_000628 miriam-gene:1786, lld:C1858804; a sio:SIO_001121 . } dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_provenance { dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion dcterms:description "[To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in exon 21.]. 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:23521649; 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:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_publicationInfo { this: dcterms:created "2016-05-13T12:49:48+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" . }