http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#head
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#assertion
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#provenance
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#assertion
http://rdf.disgenet.org/resource/gda/DGNd0666b7f3f066aa8a920ead85e821121
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/721
http://rdf.disgenet.org/resource/gda/DGNd0666b7f3f066aa8a920ead85e821121
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0852654
http://rdf.disgenet.org/resource/gda/DGNd0666b7f3f066aa8a920ead85e821121
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#provenance
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#assertion
http://purl.org/dc/terms/description
[We speculate that the presence of the 6.8-kb insert in the human C4A and some C4B genes might largely be responsible for the great instability of this chromosomal region which leads to frequent duplications and deletions, some of which cause 21-hydroxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#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/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/2347361
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#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/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/dc/terms/created
2017-10-17T13:11:09+02:00
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP150148.RAhtm7WlUWOZhHQ6lE6_uEkm4MxM2nHeyB5Tn2t3Z4RjA
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