@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:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_head { this: np:hasAssertion dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_assertion; np:hasProvenance dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_provenance; np:hasPublicationInfo dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_publicationInfo; a np:Nanopublication . dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_assertion a np:Assertion . dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_provenance a np:Provenance . dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_assertion { miriam-gene:1294 a ncit:C16612 . lld:C0079294 a ncit:C7057 . dgn-gda:DGN53b3788c8a660b5ca9e0442a8da4d5e5 sio:SIO_000628 miriam-gene:1294, lld:C0079294; a sio:SIO_001121 . } dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_provenance { dgn-np:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_assertion dcterms:description "[We have developed two new mutation detection strategies for the screening of COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an established protocol using conformational sensitive gel electrophoresis.]. 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:10504458; 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:NP264389.RAom_pU6yF7MYcQdGBxzgDft_MZ2ZGVBlsUidBRl37E_Q130_publicationInfo { this: dcterms:created "2016-05-13T12:43:45+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" . }