http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_head
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
http://identifiers.org/ncbigene/8890
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#DGNc4ce496d3404ec06c7e4fc1fc87e4d17
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/8890
http://rdf.disgenet.org/gene-disease-association.ttl#DGNc4ce496d3404ec06c7e4fc1fc87e4d17
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1858991
http://rdf.disgenet.org/gene-disease-association.ttl#DGNc4ce496d3404ec06c7e4fc1fc87e4d17
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_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#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_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#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15776425
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_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#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_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#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/dc/terms/created
2014-10-02T12:31:58+02:00
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
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