http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#head
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#assertion
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#provenance
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#assertion
http://rdf.disgenet.org/resource/gda/DGN86d5d09579c6a8662b4de8e99f5149c5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2548
http://rdf.disgenet.org/resource/gda/DGN86d5d09579c6a8662b4de8e99f5149c5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0029438
http://rdf.disgenet.org/resource/gda/DGN86d5d09579c6a8662b4de8e99f5149c5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#provenance
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#assertion
http://purl.org/dc/terms/description
[Although liver biopsy revealed moderate fibrosis with a suggested diagnosis of glycogen storage disease (GSD), no mutations were identified either by single gene approach for GSD (G6PC and GAA) or by next generation sequencing panels for GSD (including 21 genes).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#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/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25681648
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#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/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/dc/terms/created
2017-10-17T13:12:53+02:00
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP424548.RApoNxi5TgsK_ruweMSUdo-Yy7OtEedId-uVjGZSwddeY
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