http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_head http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_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/C0079301 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/DGN46bf4af496d447182247c208b83b3e81 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1308 http://rdf.disgenet.org/resource/gda/DGN46bf4af496d447182247c208b83b3e81 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0079301 http://rdf.disgenet.org/resource/gda/DGN46bf4af496d447182247c208b83b3e81 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_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/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_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/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8791519 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_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/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/dc/terms/created 2016-05-13T12:52:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE 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