http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_head http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion http://identifiers.org/ncbigene/410 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/C0023522 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/DGNd874d2693c8a43b671e5f331d13db481 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/410 http://rdf.disgenet.org/resource/gda/DGNd874d2693c8a43b671e5f331d13db481 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023522 http://rdf.disgenet.org/resource/gda/DGNd874d2693c8a43b671e5f331d13db481 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion http://purl.org/dc/terms/description [Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_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/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20339381 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_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/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/dc/terms/created 2016-05-13T12:47:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM 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