http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_head
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_assertion
http://identifiers.org/ncbigene/10717
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/DGNf82b219ae1d45ad9703d08a9f0eacb82
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/10717
http://rdf.disgenet.org/resource/gda/DGNf82b219ae1d45ad9703d08a9f0eacb82
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1512419
http://rdf.disgenet.org/resource/gda/DGNf82b219ae1d45ad9703d08a9f0eacb82
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_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/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_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/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8791519
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_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/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/dc/terms/created
2016-05-13T12:52:01+02:00
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1356907.RAkZe2w1vGNj8ZmsHhe4rm4dcye9xfcOUDXjeqcsnP_NE
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