http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_head
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://identifiers.org/ncbigene/1308
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C1512419
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGN2aed87c2cd2d585ed2d63053ea90d7d5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1308
http://rdf.disgenet.org/resource/gda/DGN2aed87c2cd2d585ed2d63053ea90d7d5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1512419
http://rdf.disgenet.org/resource/gda/DGN2aed87c2cd2d585ed2d63053ea90d7d5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://purl.org/dc/terms/description
[Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8791519
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/dc/terms/created
2015-08-25T14:40:44+02:00
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0