http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#head
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#provenance
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://rdf.disgenet.org/resource/gda/DGN7ede81d107000b7a3f912ebce134ad90
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1832
http://rdf.disgenet.org/resource/gda/DGN7ede81d107000b7a3f912ebce134ad90
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0022596
http://rdf.disgenet.org/resource/gda/DGN7ede81d107000b7a3f912ebce134ad90
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#provenance
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://purl.org/dc/terms/description
[Mutations in the plakoglobin and desmoplakin genes have been identified to underlie recessive ARVC associated with woolly hair and palmoplantar keratoderma (Naxos disease), while mutations in plakophilin2, desmoglein2 as well as desmoplakin have been identified to underlie the dominant non-syndromic form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16698823
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/dc/terms/created
2017-10-17T13:12:06+02:00
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP303610.RAsVbeWLO6rC9fliDCWuopolWXf1Ha5iv6UHw55CT5Qa8
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0