@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:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_head { this: np:hasAssertion dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_assertion; np:hasProvenance dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_provenance; np:hasPublicationInfo dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_publicationInfo; a np:Nanopublication . dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_assertion a np:Assertion . dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_provenance a np:Provenance . dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_publicationInfo a np:PublicationInfo . } dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_assertion { miriam-gene:2200 a ncit:C16612 . lld:C0009782 a ncit:C7057 . dgn-gda:DGN66a47bc1ee16a90c0e18cf71486799cf sio:SIO_000628 miriam-gene:2200, lld:C0009782; a sio:SIO_001121 . } dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_provenance { dgn-np:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_assertion dcterms:description "[Our findings expand the number of large FBN1 deletions, and emphasize the importance of screening for large genomic deletions in connective tissue disorders featuring aortopathies, especially for those with classic Marfan phenotype.]. 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:21936929; 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:NP925412.RAOzSLx3oCsMsRL2KRU8dpvbUYOJPquIF20privwDzE60130_publicationInfo { this: dcterms:created "2016-05-13T12:48:44+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }