http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#head http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#assertion http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#provenance http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#assertion http://rdf.disgenet.org/resource/gda/DGN3341bfc6fa32a08fbe5798f5a1201a4f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/846 http://rdf.disgenet.org/resource/gda/DGN3341bfc6fa32a08fbe5798f5a1201a4f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004775 http://rdf.disgenet.org/resource/gda/DGN3341bfc6fa32a08fbe5798f5a1201a4f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#provenance http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#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/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#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/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23856265 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#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/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/dc/terms/created 2017-10-17T13:11:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP161197.RAzAB5Wgxuh42yQ0TEPghWbLILWmTpOCIbbB4FxPHFlGE 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