http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#head
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#assertion
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#provenance
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#assertion
http://rdf.disgenet.org/resource/gda/DGNcb1955b62871251c8f944a0765043098
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6519
http://rdf.disgenet.org/resource/gda/DGNcb1955b62871251c8f944a0765043098
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268643
http://rdf.disgenet.org/resource/gda/DGNcb1955b62871251c8f944a0765043098
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#provenance
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#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/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#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/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16385448
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#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/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/dc/terms/created
2017-10-17T13:16:13+02:00
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP947919.RAYoUVhOw_GFaDxu-OrxF0dvpK1s8iw_K5cG0foDPFOAA
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