http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#head
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#assertion
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#provenance
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#assertion
http://rdf.disgenet.org/resource/gda/DGN06079aa82a1c189eeb42063c2bef5f6d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3849
http://rdf.disgenet.org/resource/gda/DGN06079aa82a1c189eeb42063c2bef5f6d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3665704
http://rdf.disgenet.org/resource/gda/DGN06079aa82a1c189eeb42063c2bef5f6d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#provenance
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#assertion
http://purl.org/dc/terms/description
[Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#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/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26581228
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#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/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/dc/terms/created
2017-10-17T13:14:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630256.RA7-smHMloVKeYPH4UVOKeWBZy0PzyXRWK6p_yikWBw_0
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