@prefix dc: . @prefix orcid: . @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:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_head { this: np:hasAssertion dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_assertion; np:hasProvenance dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_provenance; np:hasPublicationInfo dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_publicationInfo; a np:Nanopublication . dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_assertion a np:Assertion . dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_provenance a np:Provenance . dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_publicationInfo a np:PublicationInfo . } dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_assertion { miriam-gene:118429 a ncit:C16612 . lld:C2745948 a ncit:C7057 . dgn-gda:DGNc4ad80637c6afaae4ff8deb52902de42 sio:SIO_000628 miriam-gene:118429, lld:C2745948; a sio:SIO_001122 . } dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_provenance { dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_assertion dc:description "[Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.]. 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:12973667; prov:wasDerivedFrom dgn-void:uniprot-20150221; 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-20150221 pav:importedOn "2015-02-21"^^xsd:date . } dgn-np:NP3042.RA4RIvzOSRX-k32vdvv4w6XVFd_Adfq8qSpaliAuDIVqw130_publicationInfo { this: dc:created "2015-08-25T14:37:43+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }