@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:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_head { this: np:hasAssertion dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_assertion; np:hasProvenance dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_provenance; np:hasPublicationInfo dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_publicationInfo; a np:Nanopublication . dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_assertion a np:Assertion . dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_provenance a np:Provenance . dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_publicationInfo a np:PublicationInfo . } dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_assertion { miriam-gene:6607 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGNb3a4da7707f9f3d2e29480fee86146ce sio:SIO_000628 miriam-gene:6607, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_provenance { dgn-np:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_assertion dcterms:description "[This analysis detected the absence of the homozygous SMN1 in all the investigated cases, and allowed to discriminate between SMN1 deletion and conversion to SMN2 on the basis of the size showed by the peaks specific for the different genes mapped within the SMA critical region.]. 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:16865356; 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:NP561239.RATJj24TVuuek_jFGuOAqbFyyKK8CWgmDPnKhZNrz52w0130_publicationInfo { this: dcterms:created "2016-05-13T12:45:59+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" . }