http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_head http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_provenance http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://identifiers.org/ncbigene/2729 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/C0751748 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/DGN1ba4bba2f6f27fd821904af7ac015851 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2729 http://rdf.disgenet.org/resource/gda/DGN1ba4bba2f6f27fd821904af7ac015851 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751748 http://rdf.disgenet.org/resource/gda/DGN1ba4bba2f6f27fd821904af7ac015851 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_provenance http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://purl.org/dc/terms/description [It is sometimes problematic to confirm the diagnosis of GE since it requires either invasive liver biopsy for measurement of GCS activity or exhaustive mutational screening of three GCS genes, GLDC, AMT, and GCSH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21470805 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/dc/terms/created 2015-08-25T14:41:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP427723.RA9LXXmdqLdIBi30B9-25WLn0ITYxgfSSsgO1j_2G4918 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0