http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_head
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion
http://identifiers.org/ncbigene/5376
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/C0011195
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#DGNe44d365462df393cdff6e038afd02d2a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5376
http://rdf.disgenet.org/gene-disease-association.ttl#DGNe44d365462df393cdff6e038afd02d2a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0011195
http://rdf.disgenet.org/gene-disease-association.ttl#DGNe44d365462df393cdff6e038afd02d2a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion
http://purl.org/dc/terms/description
[We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_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#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11523566
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_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#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_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#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/dc/terms/created
2014-10-02T12:34:22+02:00
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc
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