@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:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_head { this: np:hasAssertion dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_assertion; np:hasProvenance dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_provenance; np:hasPublicationInfo dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_publicationInfo; a np:Nanopublication . dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_assertion a np:Assertion . dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_provenance a np:Provenance . dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_assertion { miriam-gene:1288 a ncit:C16612 . lld:C1567742 a ncit:C7057 . dgn-gda:DGN36a3721e6fb343db70072e7b29c2d7f3 sio:SIO_000628 miriam-gene:1288, lld:C1567742; a sio:SIO_001121 . } dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_provenance { dgn-np:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_assertion dcterms:description "[These observations suggest that deletion of the 5' exons of COL4A6 and of the common promoter of the COL4A5 and COL4A6 genes is not essential for the development of leiomyomatosis in patients with ATS, and that COL4A5_COL4A6 deletions extending into COL4A6 exon 3 may not result in ATS-DL.]. 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:23958657; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP320228.RA8nkS0tT6Q04C2yKmTH52rS80XLhjvCODQ5S2Lzs5PgQ130_publicationInfo { this: dcterms:created "2015-08-25T14:40:44+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" . }