@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:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_head { this: np:hasAssertion dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_assertion; np:hasProvenance dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_provenance; np:hasPublicationInfo dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_publicationInfo; a np:Nanopublication . dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_assertion a np:Assertion . dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_provenance a np:Provenance . dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_publicationInfo a np:PublicationInfo . } dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_assertion { miriam-gene:1286 a ncit:C16612 . lld:C1563715 a ncit:C7057 . dgn-gda:DGNb1d61b68c056cc2f2ee1fd2675e9130e sio:SIO_000628 miriam-gene:1286, lld:C1563715; a sio:SIO_001121 . } dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_provenance { dgn-np:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_assertion dcterms:description "[The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient.]. 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:21897443; 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:NP243446.RAgVI9GkdVW7kB7Mi04jLlMUbM6WN6Zgm6Ejmw3Vc7H3c130_publicationInfo { this: dcterms:created "2014-10-02T12:34:16+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" . }