@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:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_head { this: np:hasAssertion dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_assertion; np:hasProvenance dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_provenance; np:hasPublicationInfo dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_publicationInfo; a np:Nanopublication . dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_assertion a np:Assertion . dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_provenance a np:Provenance . dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_publicationInfo a np:PublicationInfo . } dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_assertion { miriam-gene:6606 a ncit:C16612 . lld:C0002736 a ncit:C7057 . dgn-gda:DGN43c086bcc0505e045beb0100c5179e9a sio:SIO_000628 miriam-gene:6606, lld:C0002736; a sio:SIO_001122 . } dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_provenance { dgn-np:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_assertion dcterms:description "[These data indicated that there would be no much difference in disease prevalence of SMA compared with western countries. Since the prevalence of SMA is higher than other autosomal recessive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling.]. 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:15608400; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP62002.RACx62YkjnCwY8DDuOkyv6COO0kS5GRVueVxm06y353Jg130_publicationInfo { this: dcterms:created "2014-10-02T12:32:29+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }