http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#head
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#assertion
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#provenance
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#assertion
http://rdf.disgenet.org/resource/gda/DGNcec5ee43f0f1a558a582559438110937
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3853
http://rdf.disgenet.org/resource/gda/DGNcec5ee43f0f1a558a582559438110937
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265334
http://rdf.disgenet.org/resource/gda/DGNcec5ee43f0f1a558a582559438110937
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#provenance
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#assertion
http://purl.org/dc/terms/description
[Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#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/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17719747
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/LHGDN
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/LHGDN
http://purl.org/pav/importedOn
2009-03-31
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/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/dc/terms/created
2017-10-17T13:14:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630701.RABlB3WwrBL27-BQL-ATDTw3fELZCmvnzooSDIGoEBdlk
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