http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#head
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#assertion
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#provenance
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#assertion
http://rdf.disgenet.org/resource/gda/DGN0f945237af212aed2b10487d22d876a7
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5979
http://rdf.disgenet.org/resource/gda/DGN0f945237af212aed2b10487d22d876a7
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027662
http://rdf.disgenet.org/resource/gda/DGN0f945237af212aed2b10487d22d876a7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#provenance
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#assertion
http://purl.org/dc/terms/description
[Activating germline RET mutations are presented in patients with familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A and 2B, whereas inactivating germline mutations in patients with Hirschsprung's disease (HSCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#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/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19826964
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#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/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/dc/terms/created
2017-10-17T13:15:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP904549.RAK9GN7tHqM3B24qBKmYdnW1_W-tGQnKivQYon8zQQbec
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