@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:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_head { this: np:hasAssertion dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_assertion; np:hasProvenance dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_provenance; np:hasPublicationInfo dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_publicationInfo; a np:Nanopublication . dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_assertion a np:Assertion . dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_provenance a np:Provenance . dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_publicationInfo a np:PublicationInfo . } dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_assertion { miriam-gene:5580 a ncit:C16612 . lld:C1832645 a ncit:C7057 . dgn-gda:DGNfc5ec8f4adaa0d68370f58f952f4bc5d sio:SIO_000628 miriam-gene:5580, lld:C1832645; a sio:SIO_001123 . } dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_provenance { dgn-np:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_assertion dcterms:description "[Seven inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, show a reduced functional activity of the receptor because they may 1) reduce its affinity for agonists; 2) prevent conversion of the receptor from a putatively immature, high mannose form into the fully glycosylated and biologically active form of the CaR, in addition to lowering its affinity for agonists; or 3) fail to couple the receptor to and/or activate its respective G protein(s).]. 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:8702647; 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:NP642789.RAimiJi9sp3EIHvnUashKKyP2EZQXLHaa1O0CyqkHH014130_publicationInfo { this: dcterms:created "2015-08-25T14:44:05+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" . }