@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:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_head { this: np:hasAssertion dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_assertion; np:hasProvenance dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_provenance; np:hasPublicationInfo dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_publicationInfo; a np:Nanopublication . dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_assertion a np:Assertion . dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_provenance a np:Provenance . dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_publicationInfo a np:PublicationInfo . } dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_assertion { miriam-gene:5824 a ncit:C16612 . lld:C0043459 a ncit:C7057 . dgn-gda:DGNea8d72b41b36351b2e1ca5a658e4efe2 sio:SIO_000628 miriam-gene:5824, lld:C0043459; a sio:SIO_001121 . } dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_provenance { dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_assertion dcterms:description "[Here, we report that GPI lipid remodeling is defective in cells from patients with Zellweger syndrome having mutations in the peroxisomal biogenesis factors PEX5, PEX16, and PEX19 and in cells from patients with RCDP types 1, 2, and 3 caused by mutations in PEX7, DHAP-AT, and alkyl-DHAP synthase, respectively.]. 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:22253471; 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:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_publicationInfo { this: dcterms:created "2014-10-02T12:35:18+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" . }