http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#head
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#assertion
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#provenance
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#assertion
http://rdf.disgenet.org/resource/gda/DGNf1d5fbf5e3dc36998dcaaded4922931e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/383
http://rdf.disgenet.org/resource/gda/DGNf1d5fbf5e3dc36998dcaaded4922931e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0235031
http://rdf.disgenet.org/resource/gda/DGNf1d5fbf5e3dc36998dcaaded4922931e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#provenance
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#assertion
http://purl.org/dc/terms/description
[In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with progressive neurological symptoms including seizures and spastic paraplegia in the first years of life and hepatic pathology, such as neonatal cholestasis, acute liver failure, or liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#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/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26123990
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#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/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/dc/terms/created
2017-10-17T13:10:44+02:00
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP85537.RAED2B9dCbPmbuLbV_pncgPe-QckEqGRz_9SQeoRx1dL4
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