@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:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_head { this: np:hasAssertion dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_assertion; np:hasProvenance dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_provenance; np:hasPublicationInfo dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_publicationInfo; a np:Nanopublication . dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_assertion a np:Assertion . dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_provenance a np:Provenance . dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_publicationInfo a np:PublicationInfo . } dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_assertion { miriam-gene:6519 a ncit:C16612 . lld:C0010691 a ncit:C7057 . dgn-gda:DGNe636d8cbc8e5b4d4ba8f39b837b4a034 sio:SIO_000628 miriam-gene:6519, lld:C0010691; a sio:SIO_001122 . } dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_provenance { dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_assertion dcterms:description "[In conclusion, we developed a reliable and robust MLPA analytic method for SLC3A1 and SLC7A9 genes that represents an optimal complement to DNA sequence analysis in patients with cystinuria, enabling the screening for deletions and duplications.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:19782624; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP5935.RASsPKxAAV20Jb9jng3gGrJNqaXnPBepX6Qc_qepsW7Pc130_publicationInfo { this: dcterms:created "2016-05-13T12:41:52+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" . }