http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#head
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#assertion
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#provenance
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#assertion
http://rdf.disgenet.org/resource/gda/DGNf8b5e84d9cacdf02fe8742757a1c6319
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3852
http://rdf.disgenet.org/resource/gda/DGNf8b5e84d9cacdf02fe8742757a1c6319
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0022596
http://rdf.disgenet.org/resource/gda/DGNf8b5e84d9cacdf02fe8742757a1c6319
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#provenance
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#assertion
http://purl.org/dc/terms/description
[Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#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/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16417221
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#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/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/dc/terms/created
2017-10-17T13:14:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630366.RAgxmimeL7njKuWjvBpfRChOyEXI4QgMnBFanrCl4sfkw
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