http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_head
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://identifiers.org/ncbigene/846
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0020437
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGN3fc8cdda7a61850d673b53a76a4840bb
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/846
http://rdf.disgenet.org/resource/gda/DGN3fc8cdda7a61850d673b53a76a4840bb
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0020437
http://rdf.disgenet.org/resource/gda/DGN3fc8cdda7a61850d673b53a76a4840bb
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://purl.org/dc/terms/description
[The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24854525
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/dc/terms/created
2016-05-13T12:50:43+02:00
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0