http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#head http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#assertion http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#provenance http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#assertion http://rdf.disgenet.org/resource/gda/DGN4f4e0847aad95c6619dafcc687125e0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2548 http://rdf.disgenet.org/resource/gda/DGN4f4e0847aad95c6619dafcc687125e0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342751 http://rdf.disgenet.org/resource/gda/DGN4f4e0847aad95c6619dafcc687125e0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#provenance http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#assertion http://purl.org/dc/terms/description [In nine Dutch patients with the infantile form of glycogen storage disease type II (GSDII), who were compound heterozygous for either 525delT or exon18del (1), sequence analysis was performed to search for the mutations in the second lysosomal alpha-glucosidase allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#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/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9660056 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#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/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/dc/terms/created 2017-10-17T13:12:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP424662.RA0PeqtTciMugIlVBd-zLyS_M_ePArNhOx5yxrUBo5_ZA 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