http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#head
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#provenance
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion
http://rdf.disgenet.org/resource/gda/DGNe9f855ee3428cae4c7581a374bb3c64e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2706
http://rdf.disgenet.org/resource/gda/DGNe9f855ee3428cae4c7581a374bb3c64e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0018784
http://rdf.disgenet.org/resource/gda/DGNe9f855ee3428cae4c7581a374bb3c64e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#provenance
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion
http://purl.org/dc/terms/description
[It has been demonstrated that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#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/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19283857
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#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/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/dc/terms/created
2017-10-17T13:13:00+02:00
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018
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