http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_head http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_assertion http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_provenance http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_assertion http://identifiers.org/ncbigene/11136 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/C0010691 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/DGN4215dc165491035c39b2312317d5f5a9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/11136 http://rdf.disgenet.org/resource/gda/DGN4215dc165491035c39b2312317d5f5a9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010691 http://rdf.disgenet.org/resource/gda/DGN4215dc165491035c39b2312317d5f5a9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_provenance http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_assertion http://purl.org/dc/terms/description [164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes), 46 type non-I (hyperexcretor heterozygotes), 14 mixed, and 67 untyped probands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_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/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15635077 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_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/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/dc/terms/created 2015-08-25T14:37:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP3150.RAkK8M-NMzX--3cn6Ym0dSbci20BQzrGsIiQj3LJBQ0nk 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