http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_head
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://identifiers.org/ncbigene/178
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/C0017922
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/gene-disease-association.ttl#DGN3cbf1501ade7f188ada27f7212d1d6a6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/178
http://rdf.disgenet.org/gene-disease-association.ttl#DGN3cbf1501ade7f188ada27f7212d1d6a6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0017922
http://rdf.disgenet.org/gene-disease-association.ttl#DGN3cbf1501ade7f188ada27f7212d1d6a6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://purl.org/dc/terms/description
[Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10571954
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000218
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000205
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724
http://purl.org/pav/2.0/importedOn
2013-07-24
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/dc/terms/created
2014-10-02T12:31:58+02:00
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0