http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#head
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#assertion
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#provenance
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#assertion
http://rdf.disgenet.org/resource/gda/DGNb09581f3c34388ba5448365f95a6c63b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2697
http://rdf.disgenet.org/resource/gda/DGNb09581f3c34388ba5448365f95a6c63b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0037274
http://rdf.disgenet.org/resource/gda/DGNb09581f3c34388ba5448365f95a6c63b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#provenance
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#assertion
http://purl.org/dc/terms/description
[The severe, progressive skin disease in EKVP subjects with GJA1 mutations is distinct from limited cutaneous findings rarely found in the systemic disorder oculodentodigital dysplasia, also caused by dominant GJA1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#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/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25398053
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#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/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/dc/terms/created
2017-10-17T13:12:59+02:00
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP440739.RA0nHmYI7y5PBwiPEucFBanEuGqRoVu86gIOlrasB0YDA
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