http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_head
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://identifiers.org/ncbigene/5824
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0282529
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGN121fe41a104ba19ca0237a3602b7595f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5824
http://rdf.disgenet.org/resource/gda/DGN121fe41a104ba19ca0237a3602b7595f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0282529
http://rdf.disgenet.org/resource/gda/DGN121fe41a104ba19ca0237a3602b7595f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22253471
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/dc/terms/created
2015-08-25T14:44:17+02:00
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP662146.RAZ3d4C0j3ihJ15_qUep06QilOTy9sr6rAyPdadGvVvnU
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0