http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#head
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#assertion
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#provenance
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#assertion
http://rdf.disgenet.org/resource/gda/DGN147d1641b39d6af6781350d10f8d323a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1629
http://rdf.disgenet.org/resource/gda/DGN147d1641b39d6af6781350d10f8d323a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0036857
http://rdf.disgenet.org/resource/gda/DGN147d1641b39d6af6781350d10f8d323a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#provenance
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#assertion
http://purl.org/dc/terms/description
[In humans, mutation of the DBT gene causes maple syrup urine disease (MSUD), a disorder of branched-chain amino acid metabolism that can result in mental retardation, severe dystonia, profound neurological damage and death. que mutants harbor abnormal amino acid levels, similar to MSUD patients and consistent with an error in branched-chain amino acid metabolism. que mutants also contain markedly reduced levels of the neurotransmitter glutamate within the brain and spinal cord, which probably contributes to their abnormal spinal cord locomotor output and aberrant motility behavior, a trait that probably represents severe dystonia in larval zebrafish.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#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/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22046030
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#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/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/dc/terms/created
2017-10-17T13:11:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP276271.RA7ixTUnVoojoSJ6ttyWmlUDKzhqaQWoa_2xBc_-0_a0I
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