@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:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_head { this: np:hasAssertion dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_assertion; np:hasProvenance dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_provenance; np:hasPublicationInfo dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_publicationInfo; a np:Nanopublication . dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_assertion a np:Assertion . dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_provenance a np:Provenance . dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_publicationInfo a np:PublicationInfo . } dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_assertion { miriam-gene:3123 a ncit:C16612 . lld:C0030360 a ncit:C7057 . dgn-gda:DGNb50c3cfc73129766e44f684f0859ef29 sio:SIO_000628 miriam-gene:3123, lld:C0030360; a sio:SIO_001121 . } dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_provenance { dgn-np:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_assertion dcterms:description "[The novel loss-of function mutation of CTSC gene (c.203 T > G) found in patients correlated with their diminished enzymatic activity, and HLA-DRB1*11 was found to be associated with PLS.]. 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:23311634; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP455252.RALMXjn0sqGGC9EDHhWI3cClJ4snhW5vSvUNIyg3AIGbo130_publicationInfo { this: dcterms:created "2015-08-25T14:42:07+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }