http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_head http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_provenance http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion http://identifiers.org/ncbigene/1967 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/C0023520 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/DGNf75f6d854b800c702d655b5e75df1497 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1967 http://rdf.disgenet.org/resource/gda/DGNf75f6d854b800c702d655b5e75df1497 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023520 http://rdf.disgenet.org/resource/gda/DGNf75f6d854b800c702d655b5e75df1497 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_provenance http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion http://purl.org/dc/terms/description [We performed eIF2B GEF activity assays in cells from 63 patients presenting with different clinical forms and eIF2B mutations in comparison to controls but also to patients with defined leukodystrophies or CACH/VWM-like diseases without eIF2B mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_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/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20016818 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_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/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/dc/terms/created 2016-05-13T12:47:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP782052.RAGTWcZAt4i1l_OP5c4Q6AflI2NOlv6JLTJT2nHpeVrMM 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