http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_head
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://identifiers.org/ncbigene/1756
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/C0268542
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/DGN04c23b18ab2b61eb6659f488b0ce5cd8
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1756
http://rdf.disgenet.org/resource/gda/DGN04c23b18ab2b61eb6659f488b0ce5cd8
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268542
http://rdf.disgenet.org/resource/gda/DGN04c23b18ab2b61eb6659f488b0ce5cd8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://purl.org/dc/terms/description
[A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10502831
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/dc/terms/created
2015-08-25T14:41:05+02:00
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP355491.RAv4e80A3UyFoSIliNHJ9G661nOSUQ9412Efg-7hu_rKU
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