http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#head http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#provenance http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://rdf.disgenet.org/resource/gda/DGN38250810c80071c99362516e92967f4a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/846 http://rdf.disgenet.org/resource/gda/DGN38250810c80071c99362516e92967f4a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342637 http://rdf.disgenet.org/resource/gda/DGN38250810c80071c99362516e92967f4a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#provenance http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23856265 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/dc/terms/created 2017-10-17T13:11:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP161479.RAGIWAVh_UQdUcPdg1jRluxKtBBluayBdh0GVPjuhh8Ks http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0