@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_head { this: np:hasAssertion dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_assertion; np:hasProvenance dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_provenance; np:hasPublicationInfo dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_publicationInfo; a np:Nanopublication . dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_assertion a np:Assertion . dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_provenance a np:Provenance . dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_publicationInfo a np:PublicationInfo . } dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_assertion { miriam-gene:5741 a ncit:C16612 . lld:C2931404 a ncit:C7057 . dgn-gda:DGNc13014385ccc5f8364658425338da4a4 sio:SIO_000628 miriam-gene:5741, lld:C2931404; a sio:SIO_001121 . } dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_provenance { dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_assertion dcterms:description "[To evaluate whether molecular diagnosis is a useful tool to characterize AHO and PHP when testing for Gsalpha activity and PTH resistance is not available, we have performed GNAS1 mutational analysis in 43 patients with PTH resistance and/or AHO.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:12621129; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP386016.RAisyK61VjbZyc9QUlNTLYc_0XBjjqWFKP9htDLMweJ2g130_publicationInfo { this: dcterms:created "2016-05-13T12:44:40+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }