@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:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_head { this: np:hasAssertion dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_assertion; np:hasProvenance dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_provenance; np:hasPublicationInfo dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_publicationInfo; a np:Nanopublication . dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_assertion a np:Assertion . dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_provenance a np:Provenance . dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_publicationInfo a np:PublicationInfo . } dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_assertion { miriam-gene:1293 a ncit:C16612 . lld:C0410179 a ncit:C7057 . dgn-gda:DGNa61f2ec43c548ea1961d9c7c33bc5f11 sio:SIO_000628 miriam-gene:1293, lld:C0410179; a sio:SIO_001121 . } dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_provenance { dgn-np:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_assertion dcterms:description "[Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis.]. 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:20882040; 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:NP842739.RAocdQXwbzjqTA87nWrdOSdtwwFEZkrzNNXWIo6YoDWZ8130_publicationInfo { this: dcterms:created "2016-05-13T12:48:07+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" . }