http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#head http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#assertion http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#provenance http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#assertion http://rdf.disgenet.org/resource/gda/DGNf34a643bb34e4c1fccd2528feee91578 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2778 http://rdf.disgenet.org/resource/gda/DGNf34a643bb34e4c1fccd2528feee91578 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0033806 http://rdf.disgenet.org/resource/gda/DGNf34a643bb34e4c1fccd2528feee91578 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#provenance http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#assertion http://purl.org/dc/terms/description [We conducted clinical and biological studies including screening for mutations in the gene encoding the alpha subunit of G(s) (GNAS1) in 30 subjects (21 unrelated families) with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP); and decreased erythrocyte G(s) activity (PHP-Ia; n = 19); AHO and decreased erythrocyte G(s) activity (isolated AHO; n = 10); or AHO, hormonal resistance, and normal erythrocyte G(s) activity (PHP-Ic; n = 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#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/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11788646 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#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/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/dc/terms/created 2017-10-17T13:13:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449443.RA4aJBbwVs0tgstHY9GClSJ7SHid7-T6AVqODZKnFD7s0 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