http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#head
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#assertion
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#provenance
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#assertion
http://rdf.disgenet.org/resource/gda/DGN973f3dfb99cee9444c49deff20658970
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6519
http://rdf.disgenet.org/resource/gda/DGN973f3dfb99cee9444c49deff20658970
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268646
http://rdf.disgenet.org/resource/gda/DGN973f3dfb99cee9444c49deff20658970
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#provenance
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#assertion
http://purl.org/dc/terms/description
[Since loss-of-function mutations in SLC3A1 are known to cause isolated cystinuria type I, and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype can be attributed to the deletion of PREPL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#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/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16385448
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#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/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/dc/terms/created
2017-10-17T13:16:13+02:00
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP947924.RACp8kuQMF_r5f3tcG8o_Zp4iwy_YFcq1Gq8Bqj_08EMo
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