http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#head
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#assertion
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#provenance
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#assertion
http://rdf.disgenet.org/resource/gda/DGNec4816d2f762907284db8cd1b10e3d28
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3861
http://rdf.disgenet.org/resource/gda/DGNec4816d2f762907284db8cd1b10e3d28
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0079298
http://rdf.disgenet.org/resource/gda/DGNec4816d2f762907284db8cd1b10e3d28
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#provenance
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#assertion
http://purl.org/dc/terms/description
[In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#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/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10733662
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#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/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/dc/terms/created
2017-10-17T13:14:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP631629.RAY4fy2nCUWk2ImNRnqygpjoH8YOIiHhx0I3zW-MD2kk0
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