http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_head
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion
http://identifiers.org/ncbigene/1738
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/C0559758
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/DGN57bcb7321099795e892e3100f01d5cd3
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1738
http://rdf.disgenet.org/resource/gda/DGN57bcb7321099795e892e3100f01d5cd3
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0559758
http://rdf.disgenet.org/resource/gda/DGN57bcb7321099795e892e3100f01d5cd3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion
http://purl.org/dc/terms/description
[We analyzed human DLD mutations linked to strikingly different clinical phenotypes, including E340K, D444V, R447G, and R460G in the dimer interface domain that are responsible for severe multisystem disorders of infancy and G194C in the NAD(+)-binding domain that is typically associated with milder presentations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_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/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21930696
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_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/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/dc/terms/created
2016-05-13T12:48:44+02:00
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw
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