http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#head
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#assertion
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#provenance
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#assertion
http://rdf.disgenet.org/resource/gda/DGN2c8c828bb718564b9a32e19ce7eb37f4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3815
http://rdf.disgenet.org/resource/gda/DGN2c8c828bb718564b9a32e19ce7eb37f4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0080024
http://rdf.disgenet.org/resource/gda/DGN2c8c828bb718564b9a32e19ce7eb37f4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#provenance
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#assertion
http://purl.org/dc/terms/description
[Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#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/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9450866
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#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/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/dc/terms/created
2017-10-17T13:14:08+02:00
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP622012.RAM0xGxvE8HNN7ncg4EubNFX2oIhdKB5MSsWoAWOl2Gpc
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