http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#head http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#assertion http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#provenance http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#assertion http://rdf.disgenet.org/resource/gda/DGNa71945e63e198c39b5b6d6cf4ca5a5ba http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5741 http://rdf.disgenet.org/resource/gda/DGNa71945e63e198c39b5b6d6cf4ca5a5ba http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020502 http://rdf.disgenet.org/resource/gda/DGNa71945e63e198c39b5b6d6cf4ca5a5ba http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#provenance http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#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/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#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/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15292296 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#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/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/dc/terms/created 2017-10-17T13:15:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP877658.RAX1j4ILmYnFUnDunZWMPoelFmGcE4Iv3aFwJppaSrzg8 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