@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:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_head { this: np:hasAssertion dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_assertion; np:hasProvenance dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_provenance; np:hasPublicationInfo dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_publicationInfo; a np:Nanopublication . dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_assertion a np:Assertion . dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_provenance a np:Provenance . dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_publicationInfo a np:PublicationInfo . } dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_assertion { miriam-gene:7248 a ncit:C16612 . lld:C0041341 a ncit:C7057 . dgn-gda:DGN8fea4ecc4f7a42f45d2ede0b2c3e870c sio:SIO_000628 miriam-gene:7248, lld:C0041341; a sio:SIO_001121 . } dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_provenance { dgn-np:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_assertion dcterms:description "[Here we report a new approach for detecting mutations in TSC: a denaturing gradient gel electrophoresis (DGGE) analysis for small TSC2 mutations, a multiplex ligation-dependent probe amplification (MLPA) analysis for large deletions and duplications in TSC1 or TSC2, and a long-range PCR/sequencing-based analysis for small TSC1 mutations.]. 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:16114042; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP509960.RAPxXYrwOSgvTOyLFxBi87jcVSEiA0fk7VxwMbwEaydn4130_publicationInfo { this: dcterms:created "2016-05-13T12:45:36+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" . }