@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:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_head { this: np:hasAssertion dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_assertion; np:hasProvenance dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_provenance; np:hasPublicationInfo dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_publicationInfo; a np:Nanopublication . dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_assertion a np:Assertion . dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_provenance a np:Provenance . dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_publicationInfo a np:PublicationInfo . } dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_assertion { miriam-gene:3925 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGN2a00a81e16d7e50455d00c68dbf922b3 sio:SIO_000628 miriam-gene:3925, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_provenance { dgn-np:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_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:NP1352533.RA4aBtv_HSIhQn9wBWhu89ybux9Fe2z0BqCoO_qVqP-5k130_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" . }