@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:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_head { this: np:hasAssertion dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_assertion; np:hasProvenance dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_provenance; np:hasPublicationInfo dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_publicationInfo; a np:Nanopublication . dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_assertion a np:Assertion . dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_provenance a np:Provenance . dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_publicationInfo a np:PublicationInfo . } dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_assertion { miriam-gene:224 a ncit:C16612 . lld:C0020758 a ncit:C7057 . dgn-gda:DGN20441b46a9306b174d664362f469a198 sio:SIO_000628 miriam-gene:224, lld:C0020758; a sio:SIO_001121 . } dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_provenance { dgn-np:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_assertion dcterms:description "[Sjögren-Larsson syndrome (SLS) is an early childhood-onset disorder with ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy caused by the deficiency of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene (the gene that encodes microsomal fatty aldehyde dehydrogenase).]. 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:16476818; 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:NP657557.RAKmJKlLW27xo0VDbk50hLn72tWr_8yx5B2wv7cdGH2Bo130_publicationInfo { this: dcterms:created "2014-10-02T12:38:36+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" . }