http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#head http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#assertion http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#provenance http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#assertion http://rdf.disgenet.org/resource/gda/DGNffa341405db7f250bc89527be26476f0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1437 http://rdf.disgenet.org/resource/gda/DGNffa341405db7f250bc89527be26476f0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3495554 http://rdf.disgenet.org/resource/gda/DGNffa341405db7f250bc89527be26476f0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#provenance http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#assertion http://purl.org/dc/terms/description [GABA-transaminase deficiency and homocarnosinosis appear to be very rare but require CSF for detection, thus allowing for the possibility that these entities, as in the other pediatric neurotransmitter disorders, are underrecognized.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#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/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15021235 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#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/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/dc/terms/created 2017-10-17T13:11:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP247117.RAAy96DGAW5z-B-Qff5c50VQGO5ed3UjmXg8VYai9k0Q4 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