@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:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_head { this: np:hasAssertion dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_assertion; np:hasProvenance dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_provenance; np:hasPublicationInfo dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_publicationInfo; a np:Nanopublication . dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_assertion a np:Assertion . dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_provenance a np:Provenance . dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_publicationInfo a np:PublicationInfo . } dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_assertion { miriam-gene:846 a ncit:C16612 . lld:C0004775 a ncit:C7057 . dgn-gda:DGN8593042d6dc5833cbe2867904854b65d sio:SIO_000628 miriam-gene:846, lld:C0004775; a sio:SIO_001121 . } dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_provenance { dgn-np:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_assertion dcterms:description "[Gain-of-function mutations, on the other hand, result in the hypocalcemic disorders of autosomal dominant hypocalcemia and Bartter syndrome type V. Moreover, autoantibodies directed against the extracellular domain of the CaSR have been found to be associated with FHH in some patients, and also in some patients with hypoparathyroidism that may be part of autoimmune polyglandular syndrome type 1.]. 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:23856265; 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:NP649811.RAWg7pXqTg9vog69JQAtxD9WUaGsdrGbz0eGrLHPl6SD8130_publicationInfo { this: dcterms:created "2014-10-02T12:38:31+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" . }