@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:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_head { this: np:hasAssertion dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_assertion; np:hasProvenance dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_provenance; np:hasPublicationInfo dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_publicationInfo; a np:Nanopublication . dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_assertion a np:Assertion . dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_provenance a np:Provenance . dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_publicationInfo a np:PublicationInfo . } dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_assertion { miriam-gene:23503 a ncit:C16612 . lld:C0025362 a ncit:C7057 . dgn-gda:DGN7ad1350b007b4910d43027fee4ba98e6 sio:SIO_000628 miriam-gene:23503, lld:C0025362; a sio:SIO_001121 . } dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_provenance { dgn-np:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_assertion dcterms:description "[Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus.]. 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:17661097; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP596593.RAZmzFjdkcqi2zCvnivMWHUKbUJGY-muTv6GTdS-yjMb4130_publicationInfo { this: dcterms:created "2014-10-02T12:37:58+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" . }