http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_head
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://identifiers.org/ncbigene/3849
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/C0343110
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/DGN9adc239ab7084312e3d0f94c262f0fa6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3849
http://rdf.disgenet.org/resource/gda/DGN9adc239ab7084312e3d0f94c262f0fa6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0343110
http://rdf.disgenet.org/resource/gda/DGN9adc239ab7084312e3d0f94c262f0fa6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://purl.org/dc/terms/description
[We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7524919
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/dc/terms/created
2016-05-13T12:51:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1310550.RACqPzDP2jU_kw2PpMzC74MOOn3OHeySDwOEFuhsMHdQE
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0