http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_head http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_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/gene-disease-association.ttl#DGN54990b30984331b260136f0336929f9b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1738 http://rdf.disgenet.org/gene-disease-association.ttl#DGN54990b30984331b260136f0336929f9b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0559758 http://rdf.disgenet.org/gene-disease-association.ttl#DGN54990b30984331b260136f0336929f9b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_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/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21930696 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/dc/terms/created 2014-10-02T12:41:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0