http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#head
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#assertion
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#provenance
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#assertion
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/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#provenance
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#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/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15635077
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/dc/terms/created
2017-10-17T13:18:06+02:00
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1240790.RAPOoS6b-m-8Xy8FLrro5CfJGIbP-G6jTRTipgfonqhkk
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