@prefix dcterms: . @prefix dgn-np: . @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 np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_head { this: np:hasAssertion dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_assertion; np:hasProvenance dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_provenance; np:hasPublicationInfo dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_publicationInfo; a np:Nanopublication . dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_assertion a np:Assertion . dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_provenance a np:Provenance . dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_publicationInfo a np:PublicationInfo . } dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_assertion { miriam-gene:5660 a ncit:C16612 . lld:C0268262 a ncit:C7057 . dgn-gda:DGN75ccc965ebfe5dbd9f873f7aa245183d sio:SIO_000628 miriam-gene:5660, lld:C0268262; a sio:SIO_001122 . } dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_provenance { dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_assertion dcterms:description "[An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:10196694; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP96.RA86L6g3ZIKG_hJ8FVABdQNmaAjqhRLfbQAEpRuJcRXd0130_publicationInfo { this: dcterms:created "2016-05-13T12:41:50+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" . }