Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_assertion description "[Heterozygous, variably sized, contiguous gene deletions causing haploinsufficiency of the WT1 and PAX6 genes on chromosome 11p13, approximately 4 Mb centromeric to BDNF (11p14.1), result in the Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_assertion evidence source_evidence_literature NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_assertion SIO_000772 18753648 NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_assertion wasDerivedFrom befree-2016 NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_assertion wasGeneratedBy ECO_0000203 NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP690188.RAGMFQudDk5XMpFKeFv3GSXeBWTlRg6VtNydMiELuC--Q130_provenance.