@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:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_head { this: np:hasAssertion dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_assertion; np:hasProvenance dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_provenance; np:hasPublicationInfo dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_publicationInfo; a np:Nanopublication . dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_assertion a np:Assertion . dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_provenance a np:Provenance . dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_publicationInfo a np:PublicationInfo . } dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_assertion { miriam-gene:5745 a ncit:C16612 . lld:C0265290 a ncit:C7057 . dgn-gda:DGN97fe025b25b2dd1ca681df0e5d08baee sio:SIO_000628 miriam-gene:5745, lld:C0265290; a sio:SIO_001121 . } dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_provenance { dgn-np:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_assertion dcterms:description "[To search for human diseases that are caused by parathyroid hormone/parathyroid hormone-related peptide receptor defects, genomic DNA of patients with pseudohypoparathyroidism type Ib and of patients with Jansen's metaphyseal chondrodysplasia was screened for mutations in all coding exons of the receptor gene.]. 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:8823526; 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:NP1358112.RAl2Kl2QxQDflS8_rghMRLw35Hy6eVsa5VQsXX4YD8mqE130_publicationInfo { this: dcterms:created "2016-05-13T12:52:01+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" . }