http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#head
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#assertion
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#provenance
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#assertion
http://rdf.disgenet.org/resource/gda/DGN9261993b5eafd784e78aaaa7b7ef0d1a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/175
http://rdf.disgenet.org/resource/gda/DGN9261993b5eafd784e78aaaa7b7ef0d1a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268225
http://rdf.disgenet.org/resource/gda/DGN9261993b5eafd784e78aaaa7b7ef0d1a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#provenance
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#assertion
http://purl.org/dc/terms/description
[Here we use the three-dimensional structure of AGA to predict structural consequences of AGU mutations, including six novel mutations, and make an effort to characterize every known disease mutation by dissecting the effect of mutations on intracellular stability, maturation, transport and the activity of AGA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#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/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11309371
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#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/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/dc/terms/created
2017-10-17T13:10:19+02:00
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP21788.RALKrDm4sZKZeIDQQLcGFKMhGt7wuQ99t_bRXiOLEEw7E
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