http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#head
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#assertion
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#provenance
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#assertion
http://rdf.disgenet.org/resource/gda/DGN67d4ff6670bb4a3341b0aa51bb8b805f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/701
http://rdf.disgenet.org/resource/gda/DGN67d4ff6670bb4a3341b0aa51bb8b805f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0025958
http://rdf.disgenet.org/resource/gda/DGN67d4ff6670bb4a3341b0aa51bb8b805f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#provenance
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#assertion
http://purl.org/dc/terms/description
[Biallelic and heterozygous mutations of the BUB1B gene have been reported in mosaic variegated aneuploidy (MVA), a rare disorder characterized by constitutional mosaic aneuploidies associated to severe intrauterine growth retardation, microcephaly and, in most cases, to premature chromatid separation (PCS), highlighting the key role of human BUBR1 in chromosome segregation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#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/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18932004
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#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/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/dc/terms/created
2017-10-17T13:11:08+02:00
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP148589.RATb2Tx_7K1uvHgLZDpoUCbuQGcNS7-QMYo0A7OXNjDYY
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