@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:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_head { this: np:hasAssertion dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_assertion; np:hasProvenance dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_provenance; np:hasPublicationInfo dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_publicationInfo; a np:Nanopublication . dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_assertion a np:Assertion . dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_provenance a np:Provenance . dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_publicationInfo a np:PublicationInfo . } dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_assertion { miriam-gene:7428 a ncit:C16612 . lld:C0018671 a ncit:C7057 . dgn-gda:DGN5dd9bb55e09dc85b3e04b7d23317bb62 sio:SIO_000628 miriam-gene:7428, lld:C0018671; a sio:SIO_001122 . } dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_provenance { dgn-np:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_assertion dcterms:description "[In contrast to other series, this cohort of Spanish patients showed many SDHB mutations. Sporadic cases with germline mutation are frequent and underline the importance of mutational screening of all PGL patients, allowing the identification of relatives ]. 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:20208144; prov:wasDerivedFrom dgn-void:gad-20150221; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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:NP119683.RAI6HoXx2kaP0HJDGd4aaZ60qT_Nu201OA1jZon2XKDsI130_publicationInfo { this: dcterms:created "2015-08-25T14:38:47+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" . }