@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:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_head { this: np:hasAssertion dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion; np:hasProvenance dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance; np:hasPublicationInfo dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_publicationInfo; a np:Nanopublication . dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion a np:Assertion . dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance a np:Provenance . dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_publicationInfo a np:PublicationInfo . } dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion { miriam-gene:1437 a ncit:C16612 . lld:C0796126 a ncit:C7057 . dgn-gda:DGN0f78d5c4a172e36abe308217a644eb50 sio:SIO_000628 miriam-gene:1437, lld:C0796126; a sio:SIO_001121 . } dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance { dgn-np:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion dcterms:description "[Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection.]. 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:10442562; 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:NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_publicationInfo { this: dcterms:created "2014-10-02T12:34:43+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" . }