@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:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_head { this: np:hasAssertion dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_assertion; np:hasProvenance dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_provenance; np:hasPublicationInfo dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_publicationInfo; a np:Nanopublication . dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_assertion a np:Assertion . dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_provenance a np:Provenance . dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_publicationInfo a np:PublicationInfo . } dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_assertion { miriam-gene:7054 a ncit:C16612 . lld:C0085584 a ncit:C7057 . dgn-gda:DGNf6da22f15d258603e3cd040d9eb52449 sio:SIO_000628 miriam-gene:7054, lld:C0085584; a sio:SIO_001121 . } dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_provenance { dgn-np:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_assertion dcterms:description "[Patients with TH deficiency suffer from progressive infantile encephalopathy dominated by motor retardation similar to a primary neuromuscular disorder, fluctuating extrapyramidal, and ocular and vegetative symptoms.]. 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:12891655; 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:NP928307.RALEnjeH0kBOZZ5ui9bavgVJyw9rLb-QUL_a9g2rzfjcM130_publicationInfo { this: dcterms:created "2014-10-02T12:41:29+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" . }