http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_head
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://identifiers.org/ncbigene/5053
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0031485
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGNd2e9b5ae0781dffc4ecbba9557c9e984
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5053
http://rdf.disgenet.org/resource/gda/DGNd2e9b5ae0781dffc4ecbba9557c9e984
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0031485
http://rdf.disgenet.org/resource/gda/DGNd2e9b5ae0781dffc4ecbba9557c9e984
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://purl.org/dc/terms/description
[The scientific approach to phenylketonuria (PKU) led to the discovery of its causes, both ultimate (allelic heterogeneity at the PAH locus) and proximate (dietary phenylalanine), the proximal phenotype (phenylalanine hydroxylase deficiency), the associated metabolic phenotype and the major distal phenotype (impaired cognitive development and neuropsychological function) for which the pathogenesis is still being investigated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7766944
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/dc/terms/created
2016-05-13T12:51:45+02:00
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1321166.RAhNMebs0f_CVQNUsIzXoVEX3azMZOfPrBhuqwVYL_BMs
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0