@prefix orcid: . @prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_head { this: np:hasAssertion dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_assertion; np:hasProvenance dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_provenance; np:hasPublicationInfo dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_publicationInfo; a np:Nanopublication . dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_assertion a np:Assertion . dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_provenance a np:Provenance . dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_publicationInfo a np:PublicationInfo . } dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_assertion { miriam-gene:7450 a ncit:C16612 . lld:C1264040 a ncit:C7057 . dgn-gda:DGN71ad60d31814da32addac62506f96d02 sio:SIO_000628 miriam-gene:7450, lld:C1264040; a sio:SIO_001122 . } dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_provenance { dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_assertion dc:description "[The family study highly suggested that the propositus is the first case of homozygote for type IIC vWD gene, although previous studies have suggested that type IIC vWD is due to double heterozygosity of two different mutant genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:8011991; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP8685.RAhlRS0Cj_dtgGJW7p72KtprX0b8kvdaSP9Q8zoPL_v08130_publicationInfo { this: dc:created "2016-05-13T12:41:53+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }