@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:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_head { this: np:hasAssertion dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_assertion; np:hasProvenance dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_provenance; np:hasPublicationInfo dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_publicationInfo; a np:Nanopublication . dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_assertion a np:Assertion . dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_provenance a np:Provenance . dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_publicationInfo a np:PublicationInfo . } dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_assertion { miriam-gene:7450 a ncit:C16612 . lld:C0005129 a ncit:C7057 . dgn-gda:DGNb73f89cd7a7cd4f30d2465582b76e7d2 sio:SIO_000628 miriam-gene:7450, lld:C0005129; a sio:SIO_001121 . } dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_provenance { dgn-np:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_assertion dcterms:description "[Both the genetic defects and the bleeding diatheses associated with the syndrome are heterogeneous due, in part, to the complexity of the involved receptor which consists of four different members, GPs: Ib alpha-Mr 143 K (contains the von Willebrand factor-binding site), Ib beta-Mr 22 K, V-Mr 83 K and IX-Mr 20 K. We studied a kindred that includes a 40 year-old man with severe Bernard-Soulier syndrome: life-threatening gastrointestinal bleeding, thrombocytopenia, giant platelets and absent ristocetin-dependent platelet aggregation.]. 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:8950770; 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:NP155662.RAZngf13vaZiEFDuO72-X3zUe-sLIRd2xJOBOHzEn5uTs130_publicationInfo { this: dcterms:created "2014-10-02T12:33:22+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" . }