http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#head
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#assertion
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#provenance
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#assertion
http://rdf.disgenet.org/resource/gda/DGNd7d2c11e0a492a07746f73e072f0b7c5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5741
http://rdf.disgenet.org/resource/gda/DGNd7d2c11e0a492a07746f73e072f0b7c5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0020437
http://rdf.disgenet.org/resource/gda/DGNd7d2c11e0a492a07746f73e072f0b7c5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#provenance
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#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/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#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/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15292296
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#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/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/dc/terms/created
2017-10-17T13:15:46+02:00
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP877558.RAw6Z0xz8MGe3jlwkueCVJnhenNJEnNhhO748UnToXn7o
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