@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:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_head { this: np:hasAssertion dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_assertion; np:hasProvenance dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_provenance; np:hasPublicationInfo dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_publicationInfo; a np:Nanopublication . dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_assertion a np:Assertion . dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_provenance a np:Provenance . dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_publicationInfo a np:PublicationInfo . } dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_assertion { miriam-gene:4810 a ncit:C16612 . lld:C0086543 a ncit:C7057 . dgn-gda:DGNe7d93665aa92b0f308328bbf9c92c2f7 sio:SIO_000628 miriam-gene:4810, lld:C0086543; a sio:SIO_001121 . } dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_provenance { dgn-np:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_assertion dcterms:description "[Of the four families with mutations in the X-linked NHS gene, no other abnormalities were recorded except for cataract, in which a pseudo-dominant inheritance form was suggested, as female carriers also had different forms of cataracts.]. 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:24968223; 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:NP591653.RAhiRgEL4zNqRmiAIdq5O6MRcI1ltty5zNcpombXwKo9s130_publicationInfo { this: dcterms:created "2015-08-25T14:43:33+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" . }