@prefix dcterms: . @prefix orcid: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_head { this: np:hasAssertion dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion; np:hasProvenance dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_provenance; np:hasPublicationInfo dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_publicationInfo; a np:Nanopublication . dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion a np:Assertion . dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_provenance a np:Provenance . dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_publicationInfo a np:PublicationInfo . } dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_assertion { miriam-gene:11136 a ncit:C16612 . lld:C0010691 a ncit:C7057 . dgn-gda:DGN03f5daa65afef59317dba31c3a675f42 sio:SIO_000628 miriam-gene:11136, lld:C0010691; a sio:SIO_001122 . } dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_provenance { dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_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-20150221; 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-20150221 pav:importedOn "2015-02-21"^^xsd:date . } dgn-np:NP3143.RAmhCqKQ5ZgFxeQhNmQPgCc8ixweQOvAUnklw4V0KUHvM130_publicationInfo { this: dcterms:created "2015-08-25T14:37:43+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }