http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_head http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_assertion http://identifiers.org/ncbigene/8893 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#DGN4059ea0492623ad7961f59d8a8728778 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8893 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4059ea0492623ad7961f59d8a8728778 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1858991 http://rdf.disgenet.org/gene-disease-association.ttl#DGN4059ea0492623ad7961f59d8a8728778 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_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#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_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#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15776425 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_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#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_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#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/dc/terms/created 2014-10-02T12:31:58+02:00 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP1960.RASjo8yDYqiEYAX3I9BntiVZZILDuSTijovgnxEhYo1Zg 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