http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_head
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://identifiers.org/ncbigene/8892
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/C0023520
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#DGNa643ec3c36fceec33d31b516259e0646
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/8892
http://rdf.disgenet.org/gene-disease-association.ttl#DGNa643ec3c36fceec33d31b516259e0646
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0023520
http://rdf.disgenet.org/gene-disease-association.ttl#DGNa643ec3c36fceec33d31b516259e0646
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://purl.org/dc/terms/description
[Although recurrent mutations have been found at CpG dinucleotides in the EIF2B genes, the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of EIF2B screening in cases of undiagnosed leukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18263758
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/dc/terms/created
2014-10-02T12:35:37+02:00
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP371174.RAiVe0ZlOpqFvIGgCyP8wWARDmkbQAU8WB2BwKa193LtE
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