http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#head
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#assertion
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#provenance
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#assertion
http://rdf.disgenet.org/resource/gda/DGN09beceb844fc915084167f3586f89b78
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3858
http://rdf.disgenet.org/resource/gda/DGN09beceb844fc915084167f3586f89b78
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0079153
http://rdf.disgenet.org/resource/gda/DGN09beceb844fc915084167f3586f89b78
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#provenance
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#assertion
http://purl.org/dc/terms/description
[R162W was detected in five unrelated families and affects the corresponding residue in the keratin 14 and keratin 10 genes that is also altered in cases of epidermolysis bullosa simplex and generalised epidermolytic hyperkeratosis, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#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/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7512862
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#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/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/dc/terms/created
2017-10-17T13:14:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP631330.RATde1zIwCAhzjbroZ4G35LIhigrT7iE4lBE226JipCo0
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