@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:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_head { this: np:hasAssertion dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_assertion; np:hasProvenance dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_provenance; np:hasPublicationInfo dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_publicationInfo; a np:Nanopublication . dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_assertion a np:Assertion . dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_provenance a np:Provenance . dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_publicationInfo a np:PublicationInfo . } dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_assertion { miriam-gene:846 a ncit:C16612 . lld:C0001430 a ncit:C7057 . dgn-gda:DGN47dae5ce57f7266115df8b64db2f0733 sio:SIO_000628 miriam-gene:846, lld:C0001430; a sio:SIO_001121 . } dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_provenance { dgn-np:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_assertion dcterms:description "[There is overlap in the diagnostic criteria for the two disorders and some patients carrying inactivating mutations in the CaSR gene, which is suggestive of FHH, also have HPT with hyperplastic parathyroid glands or adenomas.]. 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:21521328; 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:NP282656.RAkLhR5JN3aNgSyM4-c6DtJfwx2TQ1tcy8OrAJWkGFFFc130_publicationInfo { this: dcterms:created "2015-08-25T14:40:21+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }