http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_head
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://identifiers.org/ncbigene/1967
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/C1858991
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/gene-disease-association.ttl#DGN53a88b2d4db1f6f36052b5f21289b59e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1967
http://rdf.disgenet.org/gene-disease-association.ttl#DGN53a88b2d4db1f6f36052b5f21289b59e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1858991
http://rdf.disgenet.org/gene-disease-association.ttl#DGN53a88b2d4db1f6f36052b5f21289b59e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://purl.org/dc/terms/description
[In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15776425
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000218
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000205
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724
http://purl.org/pav/2.0/importedOn
2013-07-24
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/dc/terms/created
2014-10-02T12:31:58+02:00
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0