http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#head http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#assertion http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#provenance http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#assertion http://rdf.disgenet.org/resource/gda/DGN3e1023dce3e27855615376bed4de1831 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/846 http://rdf.disgenet.org/resource/gda/DGN3e1023dce3e27855615376bed4de1831 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1809471 http://rdf.disgenet.org/resource/gda/DGN3e1023dce3e27855615376bed4de1831 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#provenance http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#assertion http://purl.org/dc/terms/description [Five missense variant CASRs, identified in control subjects, performed as wild type in functional assays, whereas the missense mutant CASRs identified in the FHH patients, and in the one PHPT case, exhibited significant impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#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/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20164288 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#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/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/dc/terms/created 2017-10-17T13:11:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP160716.RAn9XVZguT43v7WUqsLGZ6ThHAnPr_xioWAGL9CqABU7E 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