http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#head
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#assertion
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#provenance
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#assertion
http://rdf.disgenet.org/resource/gda/DGNaebd94709d30bdea9c00495e80ff9448
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2668
http://rdf.disgenet.org/resource/gda/DGNaebd94709d30bdea9c00495e80ff9448
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0019569
http://rdf.disgenet.org/resource/gda/DGNaebd94709d30bdea9c00495e80ff9448
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#provenance
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#assertion
http://purl.org/dc/terms/description
[GDNF sequence variants including R93W have been suggested previously to represent low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in 376 control alleles studied by others.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#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/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9215674
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#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/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/dc/terms/created
2017-10-17T13:12:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP435832.RAMCpKxLTEEzAw_Ip9bS2IclsScI3mq23E5RorsH1gUT4
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