http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_head
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://identifiers.org/ncbigene/7957
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/C0751783
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/DGNe7726c8777d7e990e069ffe1b04317e6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7957
http://rdf.disgenet.org/resource/gda/DGNe7726c8777d7e990e069ffe1b04317e6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0751783
http://rdf.disgenet.org/resource/gda/DGNe7726c8777d7e990e069ffe1b04317e6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://purl.org/dc/terms/description
[The data reported here represent the first systematic analysis of the mutational events in the EPM2A gene in Lafora disease patients and provide insight into the origin and evolution of the different EPM2A alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11175283
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/uniprot-2016
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v4.0.0/void/uniprot-2016
http://purl.org/pav/importedOn
2016-01-25
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/dc/terms/created
2016-05-13T12:41:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
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