http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_head
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_assertion
http://identifiers.org/ncbigene/51172
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/C0038506
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/DGNf06a390911082c4fcda104c94654540f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/51172
http://rdf.disgenet.org/resource/gda/DGNf06a390911082c4fcda104c94654540f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0038506
http://rdf.disgenet.org/resource/gda/DGNf06a390911082c4fcda104c94654540f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_assertion
http://purl.org/dc/terms/description
[While data on the GlcNAc-phosphotransferase encoded by GNPTAB/G remains limited and only suggestive, a study of the enzyme encoded by NAGPA has shown that the mutations found in stuttering reduce the overall cellular activity of this enzyme by about half, and that they result in deficits in intracellular processing and trafficking that lead to a reduced cellular half life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_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/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22884963
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_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/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/dc/terms/created
2016-05-13T12:49:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1004478.RAZSZTh14ZAxHMQ1WBbFf_RnOgjY5UxSoGPAOJ__3aezw
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