@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:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_head { this: np:hasAssertion dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_assertion; np:hasProvenance dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_provenance; np:hasPublicationInfo dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_publicationInfo; a np:Nanopublication . dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_assertion a np:Assertion . dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_provenance a np:Provenance . dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_publicationInfo a np:PublicationInfo . } dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_assertion { miriam-gene:3925 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGNaa2ba7458d19b17ee6900b69dd4c7ffc sio:SIO_000628 miriam-gene:3925, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_provenance { dgn-np:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_assertion dcterms:description "[We have developed a novel means of preimplantation diagnosis of SMA using a nested polymerase chain reaction (PCR) amplification of exon 7 of SMN, followed by a HinfI restriction digest of the PCR product enabling the important SMN1 gene to be distinguished from the centromeric SMN2 gene which has no clinical phenotype.]. 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:11574669; 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:NP331285.RAak-bRHVk0-tCUJvwv08pbxsi9WghBWcRnKLB2SKGIgM130_publicationInfo { this: dcterms:created "2016-05-13T12:44:15+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" . }