http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_head http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_provenance http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://identifiers.org/ncbigene/5741 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/gene-disease-association.ttl#DGNa99375281cf5da2ed45a1c5fdb07bb98 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5741 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa99375281cf5da2ed45a1c5fdb07bb98 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020437 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa99375281cf5da2ed45a1c5fdb07bb98 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_provenance http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://purl.org/dc/terms/description [In a case of neonatal severe hyperparathyroidism characterized by moderately severe hypercalcemia and very high PTH levels, coupled with evidence of hyperparathyroidism and effects on brain development not previously demonstrated, we detected point mutations on separate alleles of the CaR, resulting in premature stop codon substitutions at G94 and R648.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15292296 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/dc/terms/created 2014-10-02T12:33:26+02:00 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP159252.RA6UVnZ3lQm0vMhZXBRP-FUlsF64szvC7wBuios_pJ230 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0