@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:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_head { this: np:hasAssertion dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_assertion; np:hasProvenance dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_provenance; np:hasPublicationInfo dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_publicationInfo; a np:Nanopublication . dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_assertion a np:Assertion . dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_provenance a np:Provenance . dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_publicationInfo a np:PublicationInfo . } dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_assertion { miriam-gene:412 a ncit:C16612 . lld:C2720163 a ncit:C7057 . dgn-gda:DGNb10c56418a97a48cc58e4a4c5ae0490d sio:SIO_000628 miriam-gene:412, lld:C2720163; a sio:SIO_001121 . } dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_provenance { dgn-np:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_assertion dcterms:description "[It is important to determine the STS activity in the propositus mother of apparently non familial cases of XLI to identify the carrier state and provide and accurate genetic counseling, as most of these seem to correspond to inherited cases.]. 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:7546451; 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:NP1312019.RAIp9J8epbht9gjPXp5gIvhNGfHyHrvWrmeB2NPDmB2ME130_publicationInfo { this: dcterms:created "2016-05-13T12:51:40+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" . }