@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:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_head { this: np:hasAssertion dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_assertion; np:hasProvenance dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_provenance; np:hasPublicationInfo dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_publicationInfo; a np:Nanopublication . dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_assertion a np:Assertion . dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_provenance a np:Provenance . dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_publicationInfo a np:PublicationInfo . } dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_assertion { miriam-gene:8929 a ncit:C16612 . lld:C1275808 a ncit:C7057 . dgn-gda:DGN28f17c4b6f82521c5268dc75c0467f66 sio:SIO_000628 miriam-gene:8929, lld:C1275808; a sio:SIO_001122 . } dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_provenance { dgn-np:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_assertion dcterms:description "[Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.]. 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:19881470; 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:NP773088.RAdb86a7AEB3gs06dukBSis91Zsa4snQJtpXZP9alr_Uk130_publicationInfo { this: dcterms:created "2016-05-13T12:47:35+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" . }