http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_head http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://identifiers.org/ncbigene/411 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/C0026709 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/DGN6443924da547a96c9927d28a82f95c31 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/411 http://rdf.disgenet.org/resource/gda/DGN6443924da547a96c9927d28a82f95c31 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026709 http://rdf.disgenet.org/resource/gda/DGN6443924da547a96c9927d28a82f95c31 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://purl.org/dc/terms/description [The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14974081 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/dc/terms/created 2015-08-25T14:37:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0