http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_head
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://identifiers.org/ncbigene/2081
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/C0002736
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/DGN4d416540f5218fb4d2103cd761260012
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2081
http://rdf.disgenet.org/resource/gda/DGN4d416540f5218fb4d2103cd761260012
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0002736
http://rdf.disgenet.org/resource/gda/DGN4d416540f5218fb4d2103cd761260012
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://purl.org/dc/terms/description
[Firstly, the mutation P56S in the VAPB is seen to increase the stability of the protein and secondly, the mutation P56S in VAPB is seen to interrupt the functioning of the gene and loses its ability to be involved in the activation of the IRE1/XBP1 pathway which leads to ALS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24681403
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/dc/terms/created
2016-05-13T12:50:35+02:00
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0