http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#head http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#assertion http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#provenance http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#assertion http://rdf.disgenet.org/resource/gda/DGNcb9905ffe5325aeff2305ff7e8dcd4be http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3918 http://rdf.disgenet.org/resource/gda/DGNcb9905ffe5325aeff2305ff7e8dcd4be http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3495554 http://rdf.disgenet.org/resource/gda/DGNcb9905ffe5325aeff2305ff7e8dcd4be http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#provenance http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#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/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#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/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15021235 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#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/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/dc/terms/created 2017-10-17T13:14:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP634570.RA7IOd7uL0k4u4r_j_C16cACmMH01j94fnLWdBjelFzKI 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