@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:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_head { this: np:hasAssertion dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_assertion; np:hasProvenance dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_provenance; np:hasPublicationInfo dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_publicationInfo; a np:Nanopublication . dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_assertion a np:Assertion . dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_provenance a np:Provenance . dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_publicationInfo a np:PublicationInfo . } dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_assertion { miriam-gene:6638 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGNa0c68746e95dad8dd116d0ece9d0b804 sio:SIO_000628 miriam-gene:6638, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_provenance { dgn-np:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_assertion dcterms:description "[While the confirmation of SMN gene deletions is very useful in cases with diagnostic doubts, caution is required when offering prenatal prediction with regard to SMA 5q in families with atypical features.]. 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:8677029; 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:NP1352537.RA8X19MPNX7shS5EDlEGHN1iY4dCblsiQrQo3rfQApqKM130_publicationInfo { this: dcterms:created "2016-05-13T12:51:59+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" . }